SNP Links for Protein (Select 11464969) - SNP

Links from Protein

Items: 1 to 20 of 389

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Select item 14879251561.

rs1487925156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:26508097 (GRCh38)
8:26365613 (GRCh37)
Canonical SPDI:: NC_000008.11:26508096:A:G
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.26508097A>G, NC_000008.10:g.26365613A>G, NM_007257.6:c.659T>C, NM_007257.5:c.659T>C, XM_011544365.4:c.659T>C, XM_011544365.3:c.659T>C, XM_011544365.2:c.659T>C, XM_011544365.1:c.659T>C, NP_009188.1:p.Ile220Thr, XP_011542667.1:p.Ile220Thr

Select item 14871145602.

rs1487114560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:26507906 (GRCh38)
8:26365422 (GRCh37)
Canonical SPDI:: NC_000008.11:26507905:C:T
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.26507906C>T, NC_000008.10:g.26365422C>T, NM_007257.6:c.850G>A, NM_007257.5:c.850G>A, XM_011544365.4:c.850G>A, XM_011544365.3:c.850G>A, XM_011544365.2:c.850G>A, XM_011544365.1:c.850G>A, NP_009188.1:p.Ala284Thr, XP_011542667.1:p.Ala284Thr

Select item 14864215083.

rs1486421508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:26507825 (GRCh38)
8:26365341 (GRCh37)
Canonical SPDI:: NC_000008.11:26507824:G:A
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.26507825G>A, NC_000008.10:g.26365341G>A, NM_007257.6:c.931C>T, NM_007257.5:c.931C>T, XM_011544365.4:c.931C>T, XM_011544365.3:c.931C>T, XM_011544365.2:c.931C>T, XM_011544365.1:c.931C>T, NP_009188.1:p.Arg311Trp, XP_011542667.1:p.Arg311Trp

Select item 14861582344.

rs1486158234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:26507824 (GRCh38)
8:26365340 (GRCh37)
Canonical SPDI:: NC_000008.11:26507823:C:A
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.26507824C>A, NC_000008.10:g.26365340C>A, NM_007257.6:c.932G>T, NM_007257.5:c.932G>T, XM_011544365.4:c.932G>T, XM_011544365.3:c.932G>T, XM_011544365.2:c.932G>T, XM_011544365.1:c.932G>T, NP_009188.1:p.Arg311Leu, XP_011542667.1:p.Arg311Leu

Select item 14794616225.

rs1479461622 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:26507945 (GRCh38)
8:26365462 (GRCh37)
Canonical SPDI:: NC_000008.11:26507945:T:TT
Gene:: PNMA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.26507946dup, NC_000008.10:g.26365462dup, NM_007257.6:c.810dup, NM_007257.5:c.810dup, XM_011544365.4:c.810dup, XM_011544365.3:c.810dup, XM_011544365.2:c.810dup, XM_011544365.1:c.810dup, NP_009188.1:p.Arg271fs, XP_011542667.1:p.Arg271fs

Select item 14776271166.

rs1477627116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:26508415 (GRCh38)
8:26365931 (GRCh37)
Canonical SPDI:: NC_000008.11:26508414:C:G
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.26508415C>G, NC_000008.10:g.26365931C>G, NM_007257.6:c.341G>C, NM_007257.5:c.341G>C, XM_011544365.4:c.341G>C, XM_011544365.3:c.341G>C, XM_011544365.2:c.341G>C, XM_011544365.1:c.341G>C, NP_009188.1:p.Gly114Ala, XP_011542667.1:p.Gly114Ala

Select item 14759571037.

rs1475957103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:26508691 (GRCh38)
8:26366207 (GRCh37)
Canonical SPDI:: NC_000008.11:26508690:A:G
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.26508691A>G, NC_000008.10:g.26366207A>G, NM_007257.6:c.65T>C, NM_007257.5:c.65T>C, XM_011544365.4:c.65T>C, XM_011544365.3:c.65T>C, XM_011544365.2:c.65T>C, XM_011544365.1:c.65T>C, NP_009188.1:p.Met22Thr, XP_011542667.1:p.Met22Thr

Select item 14704160498.

rs1470416049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:26507699 (GRCh38)
8:26365215 (GRCh37)
Canonical SPDI:: NC_000008.11:26507698:C:A
Gene:: PNMA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
A=0.000684/2 (KOREAN)
HGVS:: NC_000008.11:g.26507699C>A, NC_000008.10:g.26365215C>A, NM_007257.6:c.1057G>T, NM_007257.5:c.1057G>T, XM_011544365.4:c.1057G>T, XM_011544365.3:c.1057G>T, XM_011544365.2:c.1057G>T, XM_011544365.1:c.1057G>T, NP_009188.1:p.Asp353Tyr, XP_011542667.1:p.Asp353Tyr

Select item 14691768579.

rs1469176857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:26508743 (GRCh38)
8:26366259 (GRCh37)
Canonical SPDI:: NC_000008.11:26508742:G:A
Gene:: PNMA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.26508743G>A, NC_000008.10:g.26366259G>A, NM_007257.6:c.13C>T, NM_007257.5:c.13C>T, XM_011544365.4:c.13C>T, XM_011544365.3:c.13C>T, XM_011544365.2:c.13C>T, XM_011544365.1:c.13C>T

Select item 146436343110.

rs1464363431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:26508494 (GRCh38)
8:26366010 (GRCh37)
Canonical SPDI:: NC_000008.11:26508493:C:T
Gene:: PNMA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.26508494C>T, NC_000008.10:g.26366010C>T, NM_007257.6:c.262G>A, NM_007257.5:c.262G>A, XM_011544365.4:c.262G>A, XM_011544365.3:c.262G>A, XM_011544365.2:c.262G>A, XM_011544365.1:c.262G>A, NP_009188.1:p.Val88Ile, XP_011542667.1:p.Val88Ile

Select item 146426759011.

rs1464267590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:26507730 (GRCh38)
8:26365246 (GRCh37)
Canonical SPDI:: NC_000008.11:26507729:C:A
Gene:: PNMA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.26507730C>A, NC_000008.10:g.26365246C>A, NM_007257.6:c.1026G>T, NM_007257.5:c.1026G>T, XM_011544365.4:c.1026G>T, XM_011544365.3:c.1026G>T, XM_011544365.2:c.1026G>T, XM_011544365.1:c.1026G>T, NP_009188.1:p.Glu342Asp, XP_011542667.1:p.Glu342Asp

Select item 146327575712.

rs1463275757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:26508093 (GRCh38)
8:26365609 (GRCh37)
Canonical SPDI:: NC_000008.11:26508092:C:G
Gene:: PNMA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.26508093C>G, NC_000008.10:g.26365609C>G, NM_007257.6:c.663G>C, NM_007257.5:c.663G>C, XM_011544365.4:c.663G>C, XM_011544365.3:c.663G>C, XM_011544365.2:c.663G>C, XM_011544365.1:c.663G>C

Select item 144760687013.

rs1447606870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:26508432 (GRCh38)
8:26365948 (GRCh37)
Canonical SPDI:: NC_000008.11:26508431:C:G
Gene:: PNMA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.26508432C>G, NC_000008.10:g.26365948C>G, NM_007257.6:c.324G>C, NM_007257.5:c.324G>C, XM_011544365.4:c.324G>C, XM_011544365.3:c.324G>C, XM_011544365.2:c.324G>C, XM_011544365.1:c.324G>C

Select item 144483085114.

rs1444830851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:26508571 (GRCh38)
8:26366087 (GRCh37)
Canonical SPDI:: NC_000008.11:26508570:G:A
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.26508571G>A, NC_000008.10:g.26366087G>A, NM_007257.6:c.185C>T, NM_007257.5:c.185C>T, XM_011544365.4:c.185C>T, XM_011544365.3:c.185C>T, XM_011544365.2:c.185C>T, XM_011544365.1:c.185C>T, NP_009188.1:p.Ala62Val, XP_011542667.1:p.Ala62Val

Select item 144396186115.

rs1443961861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:26508744 (GRCh38)
8:26366260 (GRCh37)
Canonical SPDI:: NC_000008.11:26508743:T:C
Gene:: PNMA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.26508744T>C, NC_000008.10:g.26366260T>C, NM_007257.6:c.12A>G, NM_007257.5:c.12A>G, XM_011544365.4:c.12A>G, XM_011544365.3:c.12A>G, XM_011544365.2:c.12A>G, XM_011544365.1:c.12A>G

Select item 144347698416.

rs1443476984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:26508259 (GRCh38)
8:26365775 (GRCh37)
Canonical SPDI:: NC_000008.11:26508258:C:T
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.26508259C>T, NC_000008.10:g.26365775C>T, NM_007257.6:c.497G>A, NM_007257.5:c.497G>A, XM_011544365.4:c.497G>A, XM_011544365.3:c.497G>A, XM_011544365.2:c.497G>A, XM_011544365.1:c.497G>A, NP_009188.1:p.Arg166Gln, XP_011542667.1:p.Arg166Gln

Select item 144054777917.

rs1440547779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:26508342 (GRCh38)
8:26365858 (GRCh37)
Canonical SPDI:: NC_000008.11:26508341:T:C
Gene:: PNMA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.26508342T>C, NC_000008.10:g.26365858T>C, NM_007257.6:c.414A>G, NM_007257.5:c.414A>G, XM_011544365.4:c.414A>G, XM_011544365.3:c.414A>G, XM_011544365.2:c.414A>G, XM_011544365.1:c.414A>G

Select item 143664468318.

rs1436644683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:26507790 (GRCh38)
8:26365306 (GRCh37)
Canonical SPDI:: NC_000008.11:26507789:G:A
Gene:: PNMA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.26507790G>A, NC_000008.10:g.26365306G>A, NM_007257.6:c.966C>T, NM_007257.5:c.966C>T, XM_011544365.4:c.966C>T, XM_011544365.3:c.966C>T, XM_011544365.2:c.966C>T, XM_011544365.1:c.966C>T

Select item 143576798119.

rs1435767981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:26507851 (GRCh38)
8:26365367 (GRCh37)
Canonical SPDI:: NC_000008.11:26507850:G:C
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.006/11 (Korea1K)
HGVS:: NC_000008.11:g.26507851G>C, NC_000008.10:g.26365367G>C, NM_007257.6:c.905C>G, NM_007257.5:c.905C>G, XM_011544365.4:c.905C>G, XM_011544365.3:c.905C>G, XM_011544365.2:c.905C>G, XM_011544365.1:c.905C>G, NP_009188.1:p.Ala302Gly, XP_011542667.1:p.Ala302Gly

Select item 143556219720.

rs1435562197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:26508077 (GRCh38)
8:26365593 (GRCh37)
Canonical SPDI:: NC_000008.11:26508076:A:G
Gene:: PNMA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.26508077A>G, NC_000008.10:g.26365593A>G, NM_007257.6:c.679T>C, NM_007257.5:c.679T>C, XM_011544365.4:c.679T>C, XM_011544365.3:c.679T>C, XM_011544365.2:c.679T>C, XM_011544365.1:c.679T>C, NP_009188.1:p.Ser227Pro, XP_011542667.1:p.Ser227Pro

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