SNP Links for Protein (Select 1206271392) - SNP

Links from Protein

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Select item 14905246551.

rs1490524655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 13:110687967 (GRCh38)
13:111340314 (GRCh37)
Canonical SPDI:: NC_000013.11:110687966:G:C,NC_000013.11:110687966:G:T
Gene:: CARS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110687967G>C, NC_000013.11:g.110687967G>T, NC_000013.10:g.111340314G>C, NC_000013.10:g.111340314G>T, NG_042045.2:g.30635C>G, NG_042045.2:g.30635C>A, NM_024537.4:c.445C>G, NM_024537.4:c.445C>A, NM_024537.3:c.445C>G, NM_024537.3:c.445C>A, NM_024537.2:c.445C>G, NM_024537.2:c.445C>A, NM_001352253.3:c.445C>G, NM_001352253.3:c.445C>A, NM_001352253.2:c.445C>G, NM_001352253.2:c.445C>A, NM_001352253.1:c.445C>G, NM_001352253.1:c.445C>A, NR_147942.2:n.468C>G, NR_147942.2:n.468C>A, NR_147942.1:n.532C>G, NR_147942.1:n.532C>A, NM_001352252.2:c.-555C>G, NM_001352252.2:c.-555C>A, NM_001352252.1:c.-555C>G, NM_001352252.1:c.-555C>A, NR_147941.1:n.416C>G, NR_147941.1:n.416C>A, XM_006719953.4:c.106C>G, XM_006719953.4:c.106C>A, XM_006719953.3:c.106C>G, XM_006719953.3:c.106C>A, XM_006719953.2:c.106C>G, XM_006719953.2:c.106C>A, XM_006719953.1:c.106C>G, XM_006719953.1:c.106C>A, XM_011521118.4:c.445C>G, XM_011521118.4:c.445C>A, XM_011521118.3:c.445C>G, XM_011521118.3:c.445C>A, XM_011521118.2:c.445C>G, XM_011521118.2:c.445C>A, XM_011521118.1:c.445C>G, XM_011521118.1:c.445C>A, XR_001749667.3:n.468C>G, XR_001749667.3:n.468C>A, XR_001749667.2:n.485C>G, XR_001749667.2:n.485C>A, XR_001749667.1:n.468C>G, XR_001749667.1:n.468C>A, XM_017020742.3:c.445C>G, XM_017020742.3:c.445C>A, XM_017020742.2:c.445C>G, XM_017020742.2:c.445C>A, XM_017020742.1:c.445C>G, XM_017020742.1:c.445C>A, XR_007063696.1:n.468C>G, XR_007063696.1:n.468C>A, XM_047430605.1:c.445C>G, XM_047430605.1:c.445C>A, XM_047430606.1:c.100C>G, XM_047430606.1:c.100C>A, XM_047430607.1:c.445C>G, XM_047430607.1:c.445C>A, XM_047430608.1:c.445C>G, XM_047430608.1:c.445C>A, NP_078813.1:p.Gln149Glu, NP_078813.1:p.Gln149Lys, NP_001339182.1:p.Gln149Glu, NP_001339182.1:p.Gln149Lys, XP_006720016.1:p.Gln36Glu, XP_006720016.1:p.Gln36Lys, XP_011519420.1:p.Gln149Glu, XP_011519420.1:p.Gln149Lys, XP_016876231.1:p.Gln149Glu, XP_016876231.1:p.Gln149Lys, XP_047286561.1:p.Gln149Glu, XP_047286561.1:p.Gln149Lys, XP_047286562.1:p.Gln34Glu, XP_047286562.1:p.Gln34Lys, XP_047286563.1:p.Gln149Glu, XP_047286563.1:p.Gln149Lys, XP_047286564.1:p.Gln149Glu, XP_047286564.1:p.Gln149Lys

Select item 14892979732.

rs1489297973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:110677065 (GRCh38)
13:111329412 (GRCh37)
Canonical SPDI:: NC_000013.11:110677064:A:C
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110677065A>C, NC_000013.10:g.111329412A>C, NG_042045.2:g.41537T>G, NM_024537.4:c.694T>G, NM_024537.3:c.694T>G, NM_024537.2:c.694T>G, NM_001352253.3:c.694T>G, NM_001352253.2:c.694T>G, NM_001352253.1:c.694T>G, NR_147942.2:n.717T>G, NR_147942.1:n.781T>G, NM_001352252.2:c.-93T>G, NM_001352252.1:c.-93T>G, NR_147941.1:n.665T>G, XM_006719953.4:c.355T>G, XM_006719953.3:c.355T>G, XM_006719953.2:c.355T>G, XM_006719953.1:c.355T>G, XM_011521118.4:c.694T>G, XM_011521118.3:c.694T>G, XM_011521118.2:c.694T>G, XM_011521118.1:c.694T>G, XR_001749667.3:n.717T>G, XR_001749667.2:n.734T>G, XR_001749667.1:n.717T>G, XM_017020742.3:c.694T>G, XM_017020742.2:c.694T>G, XM_017020742.1:c.694T>G, XR_007063696.1:n.717T>G, XM_047430605.1:c.694T>G, XM_047430606.1:c.349T>G, XM_047430607.1:c.694T>G, XM_047430609.1:c.-93T>G, XM_047430608.1:c.694T>G, NP_078813.1:p.Trp232Gly, NP_001339182.1:p.Trp232Gly, XP_006720016.1:p.Trp119Gly, XP_011519420.1:p.Trp232Gly, XP_016876231.1:p.Trp232Gly, XP_047286561.1:p.Trp232Gly, XP_047286562.1:p.Trp117Gly, XP_047286563.1:p.Trp232Gly, XP_047286564.1:p.Trp232Gly

Select item 14831354383.

rs1483135438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:110705881 (GRCh38)
13:111358228 (GRCh37)
Canonical SPDI:: NC_000013.11:110705880:T:C
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000013.11:g.110705881T>C, NC_000013.10:g.111358228T>C, NG_042045.2:g.12721A>G, NM_024537.4:c.213A>G, NM_024537.3:c.213A>G, NM_024537.2:c.213A>G, NM_001352253.3:c.213A>G, NM_001352253.2:c.213A>G, NM_001352253.1:c.213A>G, NR_147942.2:n.236A>G, NR_147942.1:n.300A>G, XM_011521118.4:c.213A>G, XM_011521118.3:c.213A>G, XM_011521118.2:c.213A>G, XM_011521118.1:c.213A>G, XR_001749667.3:n.236A>G, XR_001749667.2:n.253A>G, XR_001749667.1:n.236A>G, XM_017020742.3:c.213A>G, XM_017020742.2:c.213A>G, XM_017020742.1:c.213A>G, XR_007063696.1:n.236A>G, XM_047430605.1:c.213A>G, XM_047430607.1:c.213A>G, XM_047430608.1:c.213A>G

Select item 14827394934.

rs1482739493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110705563 (GRCh38)
13:111357910 (GRCh37)
Canonical SPDI:: NC_000013.11:110705562:C:T
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110705563C>T, NC_000013.10:g.111357910C>T, NG_042045.2:g.13039G>A, NM_024537.4:c.233G>A, NM_024537.3:c.233G>A, NM_024537.2:c.233G>A, NM_001352253.3:c.233G>A, NM_001352253.2:c.233G>A, NM_001352253.1:c.233G>A, NR_147942.2:n.256G>A, NR_147942.1:n.320G>A, NM_001352252.2:c.-767G>A, NM_001352252.1:c.-767G>A, NR_147941.1:n.154G>A, XM_006719953.4:c.-107G>A, XM_006719953.3:c.-107G>A, XM_006719953.2:c.-107G>A, XM_006719953.1:c.-107G>A, XM_011521118.4:c.233G>A, XM_011521118.3:c.233G>A, XM_011521118.2:c.233G>A, XM_011521118.1:c.233G>A, XR_001749667.3:n.256G>A, XR_001749667.2:n.273G>A, XR_001749667.1:n.256G>A, XM_017020742.3:c.233G>A, XM_017020742.2:c.233G>A, XM_017020742.1:c.233G>A, XR_007063696.1:n.256G>A, XM_047430605.1:c.233G>A, XM_047430607.1:c.233G>A, XM_047430608.1:c.233G>A, NP_078813.1:p.Cys78Tyr, NP_001339182.1:p.Cys78Tyr, XP_011519420.1:p.Cys78Tyr, XP_016876231.1:p.Cys78Tyr, XP_047286561.1:p.Cys78Tyr, XP_047286563.1:p.Cys78Tyr, XP_047286564.1:p.Cys78Tyr

Select item 14789519265.

rs1478951926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:110706058 (GRCh38)
13:111358405 (GRCh37)
Canonical SPDI:: NC_000013.11:110706057:G:A,NC_000013.11:110706057:G:C
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110706058G>A, NC_000013.11:g.110706058G>C, NC_000013.10:g.111358405G>A, NC_000013.10:g.111358405G>C, NG_042045.2:g.12544C>T, NG_042045.2:g.12544C>G, NM_024537.4:c.36C>T, NM_024537.4:c.36C>G, NM_024537.3:c.36C>T, NM_024537.3:c.36C>G, NM_024537.2:c.36C>T, NM_024537.2:c.36C>G, NM_001352253.3:c.36C>T, NM_001352253.3:c.36C>G, NM_001352253.2:c.36C>T, NM_001352253.2:c.36C>G, NM_001352253.1:c.36C>T, NM_001352253.1:c.36C>G, NR_147942.2:n.59C>T, NR_147942.2:n.59C>G, NR_147942.1:n.123C>T, NR_147942.1:n.123C>G, XM_011521118.4:c.36C>T, XM_011521118.4:c.36C>G, XM_011521118.3:c.36C>T, XM_011521118.3:c.36C>G, XM_011521118.2:c.36C>T, XM_011521118.2:c.36C>G, XM_011521118.1:c.36C>T, XM_011521118.1:c.36C>G, XR_001749667.3:n.59C>T, XR_001749667.3:n.59C>G, XR_001749667.2:n.76C>T, XR_001749667.2:n.76C>G, XR_001749667.1:n.59C>T, XR_001749667.1:n.59C>G, XM_017020742.3:c.36C>T, XM_017020742.3:c.36C>G, XM_017020742.2:c.36C>T, XM_017020742.2:c.36C>G, XM_017020742.1:c.36C>T, XM_017020742.1:c.36C>G, XR_007063696.1:n.59C>T, XR_007063696.1:n.59C>G, XM_047430605.1:c.36C>T, XM_047430605.1:c.36C>G, XM_047430607.1:c.36C>T, XM_047430607.1:c.36C>G, XM_047430608.1:c.36C>T, XM_047430608.1:c.36C>G

Select item 14779310536.

rs1477931053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110705959 (GRCh38)
13:111358306 (GRCh37)
Canonical SPDI:: NC_000013.11:110705958:G:A
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110705959G>A, NC_000013.10:g.111358306G>A, NG_042045.2:g.12643C>T, NM_024537.4:c.135C>T, NM_024537.3:c.135C>T, NM_024537.2:c.135C>T, NM_001352253.3:c.135C>T, NM_001352253.2:c.135C>T, NM_001352253.1:c.135C>T, NR_147942.2:n.158C>T, NR_147942.1:n.222C>T, XM_011521118.4:c.135C>T, XM_011521118.3:c.135C>T, XM_011521118.2:c.135C>T, XM_011521118.1:c.135C>T, XR_001749667.3:n.158C>T, XR_001749667.2:n.175C>T, XR_001749667.1:n.158C>T, XM_017020742.3:c.135C>T, XM_017020742.2:c.135C>T, XM_017020742.1:c.135C>T, XR_007063696.1:n.158C>T, XM_047430605.1:c.135C>T, XM_047430607.1:c.135C>T, XM_047430608.1:c.135C>T

Select item 14773462257.

rs1477346225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110706017 (GRCh38)
13:111358364 (GRCh37)
Canonical SPDI:: NC_000013.11:110706016:C:T
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
HGVS:: NC_000013.11:g.110706017C>T, NC_000013.10:g.111358364C>T, NG_042045.2:g.12585G>A, NM_024537.4:c.77G>A, NM_024537.3:c.77G>A, NM_024537.2:c.77G>A, NM_001352253.3:c.77G>A, NM_001352253.2:c.77G>A, NM_001352253.1:c.77G>A, NR_147942.2:n.100G>A, NR_147942.1:n.164G>A, XM_011521118.4:c.77G>A, XM_011521118.3:c.77G>A, XM_011521118.2:c.77G>A, XM_011521118.1:c.77G>A, XR_001749667.3:n.100G>A, XR_001749667.2:n.117G>A, XR_001749667.1:n.100G>A, XM_017020742.3:c.77G>A, XM_017020742.2:c.77G>A, XM_017020742.1:c.77G>A, XR_007063696.1:n.100G>A, XM_047430605.1:c.77G>A, XM_047430607.1:c.77G>A, XM_047430608.1:c.77G>A, NP_078813.1:p.Trp26Ter, NP_001339182.1:p.Trp26Ter, XP_011519420.1:p.Trp26Ter, XP_016876231.1:p.Trp26Ter, XP_047286561.1:p.Trp26Ter, XP_047286563.1:p.Trp26Ter, XP_047286564.1:p.Trp26Ter

Select item 14723540558.

rs1472354055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:110705553 (GRCh38)
13:111357900 (GRCh37)
Canonical SPDI:: NC_000013.11:110705552:A:T
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110705553A>T, NC_000013.10:g.111357900A>T, NG_042045.2:g.13049T>A, NM_024537.4:c.243T>A, NM_024537.3:c.243T>A, NM_024537.2:c.243T>A, NM_001352253.3:c.243T>A, NM_001352253.2:c.243T>A, NM_001352253.1:c.243T>A, NR_147942.2:n.266T>A, NR_147942.1:n.330T>A, NM_001352252.2:c.-757T>A, NM_001352252.1:c.-757T>A, NR_147941.1:n.164T>A, XM_006719953.4:c.-97T>A, XM_006719953.3:c.-97T>A, XM_006719953.2:c.-97T>A, XM_006719953.1:c.-97T>A, XM_011521118.4:c.243T>A, XM_011521118.3:c.243T>A, XM_011521118.2:c.243T>A, XM_011521118.1:c.243T>A, XR_001749667.3:n.266T>A, XR_001749667.2:n.283T>A, XR_001749667.1:n.266T>A, XM_017020742.3:c.243T>A, XM_017020742.2:c.243T>A, XM_017020742.1:c.243T>A, XR_007063696.1:n.266T>A, XM_047430605.1:c.243T>A, XM_047430607.1:c.243T>A, XM_047430608.1:c.243T>A

Select item 14658743189.

rs1465874318 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 13:110706036 (GRCh38)
13:111358384 (GRCh37)
Canonical SPDI:: NC_000013.11:110706036::AA
Gene:: CARS2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: AA=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110706036_110706037insAA, NC_000013.10:g.111358383_111358384insAA, NG_042045.2:g.12565_12566insTT, NM_024537.4:c.57_58insTT, NM_024537.3:c.57_58insTT, NM_024537.2:c.57_58insTT, NM_001352253.3:c.57_58insTT, NM_001352253.2:c.57_58insTT, NM_001352253.1:c.57_58insTT, NR_147942.2:n.80_81insTT, NR_147942.1:n.144_145insTT, XM_011521118.4:c.57_58insTT, XM_011521118.3:c.57_58insTT, XM_011521118.2:c.57_58insTT, XM_011521118.1:c.57_58insTT, XR_001749667.3:n.80_81insTT, XR_001749667.2:n.97_98insTT, XR_001749667.1:n.80_81insTT, XM_017020742.3:c.57_58insTT, XM_017020742.2:c.57_58insTT, XM_017020742.1:c.57_58insTT, XR_007063696.1:n.80_81insTT, XM_047430605.1:c.57_58insTT, XM_047430607.1:c.57_58insTT, XM_047430608.1:c.57_58insTT, NP_078813.1:p.Gly20fs, NP_001339182.1:p.Gly20fs, XP_011519420.1:p.Gly20fs, XP_016876231.1:p.Gly20fs, XP_047286561.1:p.Gly20fs, XP_047286563.1:p.Gly20fs, XP_047286564.1:p.Gly20fs

Select item 146584983510.

rs1465849835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:110677017 (GRCh38)
13:111329364 (GRCh37)
Canonical SPDI:: NC_000013.11:110677016:G:A,NC_000013.11:110677016:G:C
Gene:: CARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110677017G>A, NC_000013.11:g.110677017G>C, NC_000013.10:g.111329364G>A, NC_000013.10:g.111329364G>C, NG_042045.2:g.41585C>T, NG_042045.2:g.41585C>G, NM_024537.4:c.742C>T, NM_024537.4:c.742C>G, NM_024537.3:c.742C>T, NM_024537.3:c.742C>G, NM_024537.2:c.742C>T, NM_024537.2:c.742C>G, NM_001352253.3:c.742C>T, NM_001352253.3:c.742C>G, NM_001352253.2:c.742C>T, NM_001352253.2:c.742C>G, NM_001352253.1:c.742C>T, NM_001352253.1:c.742C>G, NR_147942.2:n.765C>T, NR_147942.2:n.765C>G, NR_147942.1:n.829C>T, NR_147942.1:n.829C>G, NM_001352252.2:c.-45C>T, NM_001352252.2:c.-45C>G, NM_001352252.1:c.-45C>T, NM_001352252.1:c.-45C>G, NR_147941.1:n.713C>T, NR_147941.1:n.713C>G, XM_006719953.4:c.403C>T, XM_006719953.4:c.403C>G, XM_006719953.3:c.403C>T, XM_006719953.3:c.403C>G, XM_006719953.2:c.403C>T, XM_006719953.2:c.403C>G, XM_006719953.1:c.403C>T, XM_006719953.1:c.403C>G, XM_011521118.4:c.742C>T, XM_011521118.4:c.742C>G, XM_011521118.3:c.742C>T, XM_011521118.3:c.742C>G, XM_011521118.2:c.742C>T, XM_011521118.2:c.742C>G, XM_011521118.1:c.742C>T, XM_011521118.1:c.742C>G, XR_001749667.3:n.765C>T, XR_001749667.3:n.765C>G, XR_001749667.2:n.782C>T, XR_001749667.2:n.782C>G, XR_001749667.1:n.765C>T, XR_001749667.1:n.765C>G, XM_017020742.3:c.742C>T, XM_017020742.3:c.742C>G, XM_017020742.2:c.742C>T, XM_017020742.2:c.742C>G, XM_017020742.1:c.742C>T, XM_017020742.1:c.742C>G, XR_007063696.1:n.765C>T, XR_007063696.1:n.765C>G, XM_047430605.1:c.742C>T, XM_047430605.1:c.742C>G, XM_047430606.1:c.397C>T, XM_047430606.1:c.397C>G, XM_047430607.1:c.742C>T, XM_047430607.1:c.742C>G, XM_047430609.1:c.-45C>T, XM_047430609.1:c.-45C>G, XM_047430608.1:c.742C>T, XM_047430608.1:c.742C>G, NP_078813.1:p.Pro248Ser, NP_078813.1:p.Pro248Ala, NP_001339182.1:p.Pro248Ser, NP_001339182.1:p.Pro248Ala, XP_006720016.1:p.Pro135Ser, XP_006720016.1:p.Pro135Ala, XP_011519420.1:p.Pro248Ser, XP_011519420.1:p.Pro248Ala, XP_016876231.1:p.Pro248Ser, XP_016876231.1:p.Pro248Ala, XP_047286561.1:p.Pro248Ser, XP_047286561.1:p.Pro248Ala, XP_047286562.1:p.Pro133Ser, XP_047286562.1:p.Pro133Ala, XP_047286563.1:p.Pro248Ser, XP_047286563.1:p.Pro248Ala, XP_047286564.1:p.Pro248Ser, XP_047286564.1:p.Pro248Ala

Select item 146568182311.

rs1465681823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 13:110706069 (GRCh38)
13:111358416 (GRCh37)
Canonical SPDI:: NC_000013.11:110706068:C:A,NC_000013.11:110706068:C:G,NC_000013.11:110706068:C:T
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.110706069C>A, NC_000013.11:g.110706069C>G, NC_000013.11:g.110706069C>T, NC_000013.10:g.111358416C>A, NC_000013.10:g.111358416C>G, NC_000013.10:g.111358416C>T, NG_042045.2:g.12533G>T, NG_042045.2:g.12533G>C, NG_042045.2:g.12533G>A, NM_024537.4:c.25G>T, NM_024537.4:c.25G>C, NM_024537.4:c.25G>A, NM_024537.3:c.25G>T, NM_024537.3:c.25G>C, NM_024537.3:c.25G>A, NM_024537.2:c.25G>T, NM_024537.2:c.25G>C, NM_024537.2:c.25G>A, NM_001352253.3:c.25G>T, NM_001352253.3:c.25G>C, NM_001352253.3:c.25G>A, NM_001352253.2:c.25G>T, NM_001352253.2:c.25G>C, NM_001352253.2:c.25G>A, NM_001352253.1:c.25G>T, NM_001352253.1:c.25G>C, NM_001352253.1:c.25G>A, NR_147942.2:n.48G>T, NR_147942.2:n.48G>C, NR_147942.2:n.48G>A, NR_147942.1:n.112G>T, NR_147942.1:n.112G>C, NR_147942.1:n.112G>A, XM_011521118.4:c.25G>T, XM_011521118.4:c.25G>C, XM_011521118.4:c.25G>A, XM_011521118.3:c.25G>T, XM_011521118.3:c.25G>C, XM_011521118.3:c.25G>A, XM_011521118.2:c.25G>T, XM_011521118.2:c.25G>C, XM_011521118.2:c.25G>A, XM_011521118.1:c.25G>T, XM_011521118.1:c.25G>C, XM_011521118.1:c.25G>A, XR_001749667.3:n.48G>T, XR_001749667.3:n.48G>C, XR_001749667.3:n.48G>A, XR_001749667.2:n.65G>T, XR_001749667.2:n.65G>C, XR_001749667.2:n.65G>A, XR_001749667.1:n.48G>T, XR_001749667.1:n.48G>C, XR_001749667.1:n.48G>A, XM_017020742.3:c.25G>T, XM_017020742.3:c.25G>C, XM_017020742.3:c.25G>A, XM_017020742.2:c.25G>T, XM_017020742.2:c.25G>C, XM_017020742.2:c.25G>A, XM_017020742.1:c.25G>T, XM_017020742.1:c.25G>C, XM_017020742.1:c.25G>A, XR_007063696.1:n.48G>T, XR_007063696.1:n.48G>C, XR_007063696.1:n.48G>A, XM_047430605.1:c.25G>T, XM_047430605.1:c.25G>C, XM_047430605.1:c.25G>A, XM_047430607.1:c.25G>T, XM_047430607.1:c.25G>C, XM_047430607.1:c.25G>A, XM_047430608.1:c.25G>T, XM_047430608.1:c.25G>C, XM_047430608.1:c.25G>A, NP_078813.1:p.Gly9Cys, NP_078813.1:p.Gly9Arg, NP_078813.1:p.Gly9Ser, NP_001339182.1:p.Gly9Cys, NP_001339182.1:p.Gly9Arg, NP_001339182.1:p.Gly9Ser, XP_011519420.1:p.Gly9Cys, XP_011519420.1:p.Gly9Arg, XP_011519420.1:p.Gly9Ser, XP_016876231.1:p.Gly9Cys, XP_016876231.1:p.Gly9Arg, XP_016876231.1:p.Gly9Ser, XP_047286561.1:p.Gly9Cys, XP_047286561.1:p.Gly9Arg, XP_047286561.1:p.Gly9Ser, XP_047286563.1:p.Gly9Cys, XP_047286563.1:p.Gly9Arg, XP_047286563.1:p.Gly9Ser, XP_047286564.1:p.Gly9Cys, XP_047286564.1:p.Gly9Arg, XP_047286564.1:p.Gly9Ser

Select item 146024092912.

rs1460240929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110667421 (GRCh38)
13:111319768 (GRCh37)
Canonical SPDI:: NC_000013.11:110667420:A:G
Gene:: CARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110667421A>G, NC_000013.10:g.111319768A>G, NG_042045.2:g.51181T>C, NM_024537.4:c.838T>C, NM_024537.3:c.838T>C, NM_024537.2:c.838T>C, NM_001352253.3:c.838T>C, NM_001352253.2:c.838T>C, NM_001352253.1:c.838T>C, NR_147942.2:n.861T>C, NR_147942.1:n.925T>C, NM_001352252.2:c.52T>C, NM_001352252.1:c.52T>C, NR_147941.1:n.809T>C, XM_006719953.4:c.499T>C, XM_006719953.3:c.499T>C, XM_006719953.2:c.499T>C, XM_006719953.1:c.499T>C, XM_011521118.4:c.838T>C, XM_011521118.3:c.838T>C, XM_011521118.2:c.838T>C, XM_011521118.1:c.838T>C, XR_001749667.3:n.861T>C, XR_001749667.2:n.878T>C, XR_001749667.1:n.861T>C, XM_017020742.3:c.838T>C, XM_017020742.2:c.838T>C, XM_017020742.1:c.838T>C, XR_007063696.1:n.861T>C, XM_047430605.1:c.838T>C, XM_047430606.1:c.493T>C, XM_047430607.1:c.838T>C, XM_047430609.1:c.52T>C, XM_047430608.1:c.838T>C, NP_078813.1:p.Phe280Leu, NP_001339182.1:p.Phe280Leu, NP_001339181.1:p.Phe18Leu, XP_006720016.1:p.Phe167Leu, XP_011519420.1:p.Phe280Leu, XP_016876231.1:p.Phe280Leu, XP_047286561.1:p.Phe280Leu, XP_047286562.1:p.Phe165Leu, XP_047286563.1:p.Phe280Leu, XP_047286565.1:p.Phe18Leu, XP_047286564.1:p.Phe280Leu

Select item 145888715613.

rs1458887156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:110676988 (GRCh38)
13:111329335 (GRCh37)
Canonical SPDI:: NC_000013.11:110676987:G:C
Gene:: CARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110676988G>C, NC_000013.10:g.111329335G>C, NG_042045.2:g.41614C>G, NM_024537.4:c.771C>G, NM_024537.3:c.771C>G, NM_024537.2:c.771C>G, NM_001352253.3:c.771C>G, NM_001352253.2:c.771C>G, NM_001352253.1:c.771C>G, NR_147942.2:n.794C>G, NR_147942.1:n.858C>G, NM_001352252.2:c.-16C>G, NM_001352252.1:c.-16C>G, NR_147941.1:n.742C>G, XM_006719953.4:c.432C>G, XM_006719953.3:c.432C>G, XM_006719953.2:c.432C>G, XM_006719953.1:c.432C>G, XM_011521118.4:c.771C>G, XM_011521118.3:c.771C>G, XM_011521118.2:c.771C>G, XM_011521118.1:c.771C>G, XR_001749667.3:n.794C>G, XR_001749667.2:n.811C>G, XR_001749667.1:n.794C>G, XM_017020742.3:c.771C>G, XM_017020742.2:c.771C>G, XM_017020742.1:c.771C>G, XR_007063696.1:n.794C>G, XM_047430605.1:c.771C>G, XM_047430606.1:c.426C>G, XM_047430607.1:c.771C>G, XM_047430609.1:c.-16C>G, XM_047430608.1:c.771C>G, NP_078813.1:p.Cys257Trp, NP_001339182.1:p.Cys257Trp, XP_006720016.1:p.Cys144Trp, XP_011519420.1:p.Cys257Trp, XP_016876231.1:p.Cys257Trp, XP_047286561.1:p.Cys257Trp, XP_047286562.1:p.Cys142Trp, XP_047286563.1:p.Cys257Trp, XP_047286564.1:p.Cys257Trp

Select item 145686447214.

rs1456864472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110687726 (GRCh38)
13:111340073 (GRCh37)
Canonical SPDI:: NC_000013.11:110687725:G:A
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110687726G>A, NC_000013.10:g.111340073G>A, NG_042045.2:g.30876C>T, NM_024537.4:c.566C>T, NM_024537.3:c.566C>T, NM_024537.2:c.566C>T, NM_001352253.3:c.566C>T, NM_001352253.2:c.566C>T, NM_001352253.1:c.566C>T, NR_147942.2:n.589C>T, NR_147942.1:n.653C>T, NM_001352252.2:c.-434C>T, NM_001352252.1:c.-434C>T, NR_147941.1:n.537C>T, XM_006719953.4:c.227C>T, XM_006719953.3:c.227C>T, XM_006719953.2:c.227C>T, XM_006719953.1:c.227C>T, XM_011521118.4:c.566C>T, XM_011521118.3:c.566C>T, XM_011521118.2:c.566C>T, XM_011521118.1:c.566C>T, XR_001749667.3:n.589C>T, XR_001749667.2:n.606C>T, XR_001749667.1:n.589C>T, XM_017020742.3:c.566C>T, XM_017020742.2:c.566C>T, XM_017020742.1:c.566C>T, XR_007063696.1:n.589C>T, XM_047430605.1:c.566C>T, XM_047430606.1:c.221C>T, XM_047430607.1:c.566C>T, XM_047430608.1:c.566C>T, NP_078813.1:p.Ala189Val, NP_001339182.1:p.Ala189Val, XP_006720016.1:p.Ala76Val, XP_011519420.1:p.Ala189Val, XP_016876231.1:p.Ala189Val, XP_047286561.1:p.Ala189Val, XP_047286562.1:p.Ala74Val, XP_047286563.1:p.Ala189Val, XP_047286564.1:p.Ala189Val

Select item 145097866915.

rs1450978669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110705534 (GRCh38)
13:111357881 (GRCh37)
Canonical SPDI:: NC_000013.11:110705533:G:A
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110705534G>A, NC_000013.10:g.111357881G>A, NG_042045.2:g.13068C>T, NM_024537.4:c.262C>T, NM_024537.3:c.262C>T, NM_024537.2:c.262C>T, NM_001352253.3:c.262C>T, NM_001352253.2:c.262C>T, NM_001352253.1:c.262C>T, NR_147942.2:n.285C>T, NR_147942.1:n.349C>T, NM_001352252.2:c.-738C>T, NM_001352252.1:c.-738C>T, NR_147941.1:n.183C>T, XM_006719953.4:c.-78C>T, XM_006719953.3:c.-78C>T, XM_006719953.2:c.-78C>T, XM_006719953.1:c.-78C>T, XM_011521118.4:c.262C>T, XM_011521118.3:c.262C>T, XM_011521118.2:c.262C>T, XM_011521118.1:c.262C>T, XR_001749667.3:n.285C>T, XR_001749667.2:n.302C>T, XR_001749667.1:n.285C>T, XM_017020742.3:c.262C>T, XM_017020742.2:c.262C>T, XM_017020742.1:c.262C>T, XR_007063696.1:n.285C>T, XM_047430605.1:c.262C>T, XM_047430607.1:c.262C>T, XM_047430608.1:c.262C>T, NP_078813.1:p.Leu88Phe, NP_001339182.1:p.Leu88Phe, XP_011519420.1:p.Leu88Phe, XP_016876231.1:p.Leu88Phe, XP_047286561.1:p.Leu88Phe, XP_047286563.1:p.Leu88Phe, XP_047286564.1:p.Leu88Phe

Select item 144954151316.

rs1449541513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:110705995 (GRCh38)
13:111358342 (GRCh37)
Canonical SPDI:: NC_000013.11:110705994:C:A
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.110705995C>A, NC_000013.10:g.111358342C>A, NG_042045.2:g.12607G>T, NM_024537.4:c.99G>T, NM_024537.3:c.99G>T, NM_024537.2:c.99G>T, NM_001352253.3:c.99G>T, NM_001352253.2:c.99G>T, NM_001352253.1:c.99G>T, NR_147942.2:n.122G>T, NR_147942.1:n.186G>T, XM_011521118.4:c.99G>T, XM_011521118.3:c.99G>T, XM_011521118.2:c.99G>T, XM_011521118.1:c.99G>T, XR_001749667.3:n.122G>T, XR_001749667.2:n.139G>T, XR_001749667.1:n.122G>T, XM_017020742.3:c.99G>T, XM_017020742.2:c.99G>T, XM_017020742.1:c.99G>T, XR_007063696.1:n.122G>T, XM_047430605.1:c.99G>T, XM_047430607.1:c.99G>T, XM_047430608.1:c.99G>T

Select item 144761289617.

rs1447612896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:110706082 (GRCh38)
13:111358429 (GRCh37)
Canonical SPDI:: NC_000013.11:110706081:A:C,NC_000013.11:110706081:A:G
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110706082A>C, NC_000013.11:g.110706082A>G, NC_000013.10:g.111358429A>C, NC_000013.10:g.111358429A>G, NG_042045.2:g.12520T>G, NG_042045.2:g.12520T>C, NM_024537.4:c.12T>G, NM_024537.4:c.12T>C, NM_024537.3:c.12T>G, NM_024537.3:c.12T>C, NM_024537.2:c.12T>G, NM_024537.2:c.12T>C, NM_001352253.3:c.12T>G, NM_001352253.3:c.12T>C, NM_001352253.2:c.12T>G, NM_001352253.2:c.12T>C, NM_001352253.1:c.12T>G, NM_001352253.1:c.12T>C, NR_147942.2:n.35T>G, NR_147942.2:n.35T>C, NR_147942.1:n.99T>G, NR_147942.1:n.99T>C, XM_011521118.4:c.12T>G, XM_011521118.4:c.12T>C, XM_011521118.3:c.12T>G, XM_011521118.3:c.12T>C, XM_011521118.2:c.12T>G, XM_011521118.2:c.12T>C, XM_011521118.1:c.12T>G, XM_011521118.1:c.12T>C, XR_001749667.3:n.35T>G, XR_001749667.3:n.35T>C, XR_001749667.2:n.52T>G, XR_001749667.2:n.52T>C, XR_001749667.1:n.35T>G, XR_001749667.1:n.35T>C, XM_017020742.3:c.12T>G, XM_017020742.3:c.12T>C, XM_017020742.2:c.12T>G, XM_017020742.2:c.12T>C, XM_017020742.1:c.12T>G, XM_017020742.1:c.12T>C, XR_007063696.1:n.35T>G, XR_007063696.1:n.35T>C, XM_047430605.1:c.12T>G, XM_047430605.1:c.12T>C, XM_047430607.1:c.12T>G, XM_047430607.1:c.12T>C, XM_047430608.1:c.12T>G, XM_047430608.1:c.12T>C

Select item 144634084718.

rs1446340847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110667392 (GRCh38)
13:111319739 (GRCh37)
Canonical SPDI:: NC_000013.11:110667391:C:T
Gene:: CARS2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110667392C>T, NC_000013.10:g.111319739C>T, NG_042045.2:g.51210G>A, NM_024537.4:c.867G>A, NM_024537.3:c.867G>A, NM_024537.2:c.867G>A, NM_001352253.3:c.867G>A, NM_001352253.2:c.867G>A, NM_001352253.1:c.867G>A, NR_147942.2:n.890G>A, NR_147942.1:n.954G>A, NM_001352252.2:c.81G>A, NM_001352252.1:c.81G>A, NR_147941.1:n.838G>A, XM_006719953.4:c.528G>A, XM_006719953.3:c.528G>A, XM_006719953.2:c.528G>A, XM_006719953.1:c.528G>A, XM_011521118.4:c.867G>A, XM_011521118.3:c.867G>A, XM_011521118.2:c.867G>A, XM_011521118.1:c.867G>A, XR_001749667.3:n.890G>A, XR_001749667.2:n.907G>A, XR_001749667.1:n.890G>A, XM_017020742.3:c.867G>A, XM_017020742.2:c.867G>A, XM_017020742.1:c.867G>A, XR_007063696.1:n.890G>A, XM_047430605.1:c.867G>A, XM_047430606.1:c.522G>A, XM_047430607.1:c.867G>A, XM_047430609.1:c.81G>A, XM_047430608.1:c.867G>A

Select item 144465630919.

rs1444656309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:110706079 (GRCh38)
13:111358426 (GRCh37)
Canonical SPDI:: NC_000013.11:110706078:C:G,NC_000013.11:110706078:C:T
Gene:: CARS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110706079C>G, NC_000013.11:g.110706079C>T, NC_000013.10:g.111358426C>G, NC_000013.10:g.111358426C>T, NG_042045.2:g.12523G>C, NG_042045.2:g.12523G>A, NM_024537.4:c.15G>C, NM_024537.4:c.15G>A, NM_024537.3:c.15G>C, NM_024537.3:c.15G>A, NM_024537.2:c.15G>C, NM_024537.2:c.15G>A, NM_001352253.3:c.15G>C, NM_001352253.3:c.15G>A, NM_001352253.2:c.15G>C, NM_001352253.2:c.15G>A, NM_001352253.1:c.15G>C, NM_001352253.1:c.15G>A, NR_147942.2:n.38G>C, NR_147942.2:n.38G>A, NR_147942.1:n.102G>C, NR_147942.1:n.102G>A, XM_011521118.4:c.15G>C, XM_011521118.4:c.15G>A, XM_011521118.3:c.15G>C, XM_011521118.3:c.15G>A, XM_011521118.2:c.15G>C, XM_011521118.2:c.15G>A, XM_011521118.1:c.15G>C, XM_011521118.1:c.15G>A, XR_001749667.3:n.38G>C, XR_001749667.3:n.38G>A, XR_001749667.2:n.55G>C, XR_001749667.2:n.55G>A, XR_001749667.1:n.38G>C, XR_001749667.1:n.38G>A, XM_017020742.3:c.15G>C, XM_017020742.3:c.15G>A, XM_017020742.2:c.15G>C, XM_017020742.2:c.15G>A, XM_017020742.1:c.15G>C, XM_017020742.1:c.15G>A, XR_007063696.1:n.38G>C, XR_007063696.1:n.38G>A, XM_047430605.1:c.15G>C, XM_047430605.1:c.15G>A, XM_047430607.1:c.15G>C, XM_047430607.1:c.15G>A, XM_047430608.1:c.15G>C, XM_047430608.1:c.15G>A

Select item 144325489220.

rs1443254892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110687750 (GRCh38)
13:111340097 (GRCh37)
Canonical SPDI:: NC_000013.11:110687749:G:A
Gene:: CARS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110687750G>A, NC_000013.10:g.111340097G>A, NG_042045.2:g.30852C>T, NM_024537.4:c.542C>T, NM_024537.3:c.542C>T, NM_024537.2:c.542C>T, NM_001352253.3:c.542C>T, NM_001352253.2:c.542C>T, NM_001352253.1:c.542C>T, NR_147942.2:n.565C>T, NR_147942.1:n.629C>T, NM_001352252.2:c.-458C>T, NM_001352252.1:c.-458C>T, NR_147941.1:n.513C>T, XM_006719953.4:c.203C>T, XM_006719953.3:c.203C>T, XM_006719953.2:c.203C>T, XM_006719953.1:c.203C>T, XM_011521118.4:c.542C>T, XM_011521118.3:c.542C>T, XM_011521118.2:c.542C>T, XM_011521118.1:c.542C>T, XR_001749667.3:n.565C>T, XR_001749667.2:n.582C>T, XR_001749667.1:n.565C>T, XM_017020742.3:c.542C>T, XM_017020742.2:c.542C>T, XM_017020742.1:c.542C>T, XR_007063696.1:n.565C>T, XM_047430605.1:c.542C>T, XM_047430606.1:c.197C>T, XM_047430607.1:c.542C>T, XM_047430608.1:c.542C>T, NP_078813.1:p.Ala181Val, NP_001339182.1:p.Ala181Val, XP_006720016.1:p.Ala68Val, XP_011519420.1:p.Ala181Val, XP_016876231.1:p.Ala181Val, XP_047286561.1:p.Ala181Val, XP_047286562.1:p.Ala66Val, XP_047286563.1:p.Ala181Val, XP_047286564.1:p.Ala181Val

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