SNP Links for Protein (Select 1092878774) - SNP

Select item 14887378041.

rs1488737804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30926850 (GRCh38)
17:29253868 (GRCh37)
Canonical SPDI:: NC_000017.11:30926849:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30926850C>T, NC_000017.10:g.29253868C>T, NG_051975.1:g.10115C>T, NM_018404.3:c.249C>T, NM_018404.2:c.249C>T, NM_001346712.1:c.267C>T, NM_001346712.2:c.267C>T, NM_001346714.1:c.249C>T, NM_001346714.2:c.249C>T, NM_001346716.1:c.249C>T, NM_001346716.2:c.249C>T, NR_144488.1:n.528C>T, NR_144488.2:n.319C>T, NW_025791803.1:g.6024C>T, XM_024450832.2:c.267C>T, XM_024450832.1:c.267C>T, XM_024450833.2:c.267C>T, XM_024450833.1:c.267C>T, XM_024450834.2:c.267C>T, XM_024450834.1:c.267C>T

Select item 14886971632.

rs1488697163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30931939 (GRCh38)
17:29258957 (GRCh37)
Canonical SPDI:: NC_000017.11:30931938:T:C
Gene:: ADAP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant,intron_variant
HGVS:: NC_000017.11:g.30931939T>C, NC_000017.10:g.29258957T>C, NG_051975.1:g.15204T>C, NM_018404.3:c.368T>C, NM_018404.2:c.368T>C, NM_001346712.1:c.386T>C, NM_001346712.2:c.386T>C, NM_001346714.1:c.368T>C, NM_001346714.2:c.368T>C, NM_001346716.1:c.368T>C, NM_001346716.2:c.368T>C, NW_025791803.1:g.11113T>C, XM_024450832.2:c.386T>C, XM_024450832.1:c.386T>C, XM_024450833.2:c.386T>C, XM_024450833.1:c.386T>C, XM_024450834.2:c.386T>C, XM_024450834.1:c.386T>C, XM_024450835.2:c.2T>C, XM_024450835.1:c.2T>C, NP_060874.1:p.Met123Thr, NP_001333641.1:p.Met129Thr, NP_001333643.1:p.Met123Thr, NP_001333645.1:p.Met123Thr, XP_024306600.1:p.Met129Thr, XP_024306601.1:p.Met129Thr, XP_024306602.1:p.Met129Thr, XP_024306603.1:p.Met1Thr

Select item 14844766113.

rs1484476611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:30922060 (GRCh38)
17:29249078 (GRCh37)
Canonical SPDI:: NC_000017.11:30922059:C:G,NC_000017.11:30922059:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0004/1 (KOREAN)
HGVS:: NC_000017.11:g.30922060C>G, NC_000017.11:g.30922060C>T, NC_000017.10:g.29249078C>G, NC_000017.10:g.29249078C>T, NG_051975.1:g.5325C>G, NG_051975.1:g.5325C>T, NM_018404.3:c.46C>G, NM_018404.3:c.46C>T, NM_018404.2:c.46C>G, NM_018404.2:c.46C>T, NM_001346712.1:c.46C>G, NM_001346712.1:c.46C>T, NM_001346712.2:c.46C>G, NM_001346712.2:c.46C>T, NM_001346714.1:c.46C>G, NM_001346714.1:c.46C>T, NM_001346714.2:c.46C>G, NM_001346714.2:c.46C>T, NM_001346716.1:c.46C>G, NM_001346716.1:c.46C>T, NM_001346716.2:c.46C>G, NM_001346716.2:c.46C>T, NR_144488.1:n.325C>G, NR_144488.1:n.325C>T, NR_144488.2:n.116C>G, NR_144488.2:n.116C>T, NW_025791803.1:g.1234C>G, NW_025791803.1:g.1234C>T, XM_024450832.2:c.46C>G, XM_024450832.2:c.46C>T, XM_024450832.1:c.46C>G, XM_024450832.1:c.46C>T, XM_024450833.2:c.46C>G, XM_024450833.2:c.46C>T, XM_024450833.1:c.46C>G, XM_024450833.1:c.46C>T, XM_024450834.2:c.46C>G, XM_024450834.2:c.46C>T, XM_024450834.1:c.46C>G, XM_024450834.1:c.46C>T, XM_024450835.2:c.-229C>G, XM_024450835.2:c.-229C>T, XM_024450835.1:c.-229C>G, XM_024450835.1:c.-229C>T, NP_060874.1:p.Arg16Gly, NP_060874.1:p.Arg16Trp, NP_001333641.1:p.Arg16Gly, NP_001333641.1:p.Arg16Trp, NP_001333643.1:p.Arg16Gly, NP_001333643.1:p.Arg16Trp, NP_001333645.1:p.Arg16Gly, NP_001333645.1:p.Arg16Trp, XP_024306600.1:p.Arg16Gly, XP_024306600.1:p.Arg16Trp, XP_024306601.1:p.Arg16Gly, XP_024306601.1:p.Arg16Trp, XP_024306602.1:p.Arg16Gly, XP_024306602.1:p.Arg16Trp

Select item 14838051454.

rs1483805145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30923006 (GRCh38)
17:29250024 (GRCh37)
Canonical SPDI:: NC_000017.11:30923005:A:G
Gene:: ADAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.30923006A>G, NC_000017.10:g.29250024A>G, NG_051975.1:g.6271A>G, NM_018404.3:c.161A>G, NM_018404.2:c.161A>G, NM_001346712.1:c.161A>G, NM_001346712.2:c.161A>G, NM_001346714.1:c.161A>G, NM_001346714.2:c.161A>G, NM_001346716.1:c.161A>G, NM_001346716.2:c.161A>G, NR_144488.1:n.440A>G, NR_144488.2:n.231A>G, NW_025791803.1:g.2180A>G, XM_024450832.2:c.161A>G, XM_024450832.1:c.161A>G, XM_024450833.2:c.161A>G, XM_024450833.1:c.161A>G, XM_024450834.2:c.161A>G, XM_024450834.1:c.161A>G, XM_024450835.2:c.-114A>G, XM_024450835.1:c.-114A>G, NP_060874.1:p.Asn54Ser, NP_001333641.1:p.Asn54Ser, NP_001333643.1:p.Asn54Ser, NP_001333645.1:p.Asn54Ser, XP_024306600.1:p.Asn54Ser, XP_024306601.1:p.Asn54Ser, XP_024306602.1:p.Asn54Ser

Select item 14803850995.

rs1480385099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30957845 (GRCh38)
17:29284863 (GRCh37)
Canonical SPDI:: NC_000017.11:30957844:A:G
Gene:: ADAP2 (Varview), RNF135 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30957845A>G, NC_000017.10:g.29284863A>G, NG_051975.1:g.41110A>G, NM_018404.3:c.1122A>G, NM_018404.2:c.1122A>G, NM_001346712.1:c.1140A>G, NM_001346712.2:c.1140A>G, NM_001346714.1:c.1119A>G, NM_001346714.2:c.1119A>G, NM_001346716.1:c.1044A>G, NM_001346716.2:c.1044A>G, NR_144488.1:n.1321A>G, NR_144488.2:n.1112A>G, NW_025791803.1:g.37019A>G, XM_024450832.2:c.1137A>G, XM_024450832.1:c.1137A>G, XM_024450833.2:c.1077A>G, XM_024450833.1:c.1077A>G, XM_024450834.2:c.1062A>G, XM_024450834.1:c.1062A>G, XM_024450835.2:c.756A>G, XM_024450835.1:c.756A>G

Select item 14724590356.

rs1472459035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30945028 (GRCh38)
17:29272046 (GRCh37)
Canonical SPDI:: NC_000017.11:30945027:T:C
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30945028T>C, NC_000017.10:g.29272046T>C, NG_051975.1:g.28293T>C, NM_018404.3:c.632T>C, NM_018404.2:c.632T>C, NM_001346712.1:c.650T>C, NM_001346712.2:c.650T>C, NM_001346714.1:c.632T>C, NM_001346714.2:c.632T>C, NM_001346716.1:c.632T>C, NM_001346716.2:c.632T>C, NR_144488.1:n.831T>C, NR_144488.2:n.622T>C, NW_025791803.1:g.24202T>C, XM_024450832.2:c.650T>C, XM_024450832.1:c.650T>C, XM_024450833.2:c.650T>C, XM_024450833.1:c.650T>C, XM_024450834.2:c.650T>C, XM_024450834.1:c.650T>C, XM_024450835.2:c.266T>C, XM_024450835.1:c.266T>C, NP_060874.1:p.Leu211Pro, NP_001333641.1:p.Leu217Pro, NP_001333643.1:p.Leu211Pro, NP_001333645.1:p.Leu211Pro, XP_024306600.1:p.Leu217Pro, XP_024306601.1:p.Leu217Pro, XP_024306602.1:p.Leu217Pro, XP_024306603.1:p.Leu89Pro

Select item 14700717597.

rs1470071759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30922965 (GRCh38)
17:29249983 (GRCh37)
Canonical SPDI:: NC_000017.11:30922964:G:A
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30922965G>A, NC_000017.10:g.29249983G>A, NG_051975.1:g.6230G>A, NM_018404.3:c.120G>A, NM_018404.2:c.120G>A, NM_001346712.1:c.120G>A, NM_001346712.2:c.120G>A, NM_001346714.1:c.120G>A, NM_001346714.2:c.120G>A, NM_001346716.1:c.120G>A, NM_001346716.2:c.120G>A, NR_144488.1:n.399G>A, NR_144488.2:n.190G>A, NW_025791803.1:g.2139G>A, XM_024450832.2:c.120G>A, XM_024450832.1:c.120G>A, XM_024450833.2:c.120G>A, XM_024450833.1:c.120G>A, XM_024450834.2:c.120G>A, XM_024450834.1:c.120G>A, XM_024450835.2:c.-155G>A, XM_024450835.1:c.-155G>A

Select item 14668431678.

rs1466843167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30944943 (GRCh38)
17:29271961 (GRCh37)
Canonical SPDI:: NC_000017.11:30944942:T:C
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.30944943T>C, NC_000017.10:g.29271961T>C, NG_051975.1:g.28208T>C, NM_018404.3:c.547T>C, NM_018404.2:c.547T>C, NM_001346712.1:c.565T>C, NM_001346712.2:c.565T>C, NM_001346714.1:c.547T>C, NM_001346714.2:c.547T>C, NM_001346716.1:c.547T>C, NM_001346716.2:c.547T>C, NR_144488.1:n.746T>C, NR_144488.2:n.537T>C, NW_025791803.1:g.24117T>C, XM_024450832.2:c.565T>C, XM_024450832.1:c.565T>C, XM_024450833.2:c.565T>C, XM_024450833.1:c.565T>C, XM_024450834.2:c.565T>C, XM_024450834.1:c.565T>C, XM_024450835.2:c.181T>C, XM_024450835.1:c.181T>C

Select item 14644094959.

rs1464409495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30922093 (GRCh38)
17:29249111 (GRCh37)
Canonical SPDI:: NC_000017.11:30922092:G:A
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30922093G>A, NC_000017.10:g.29249111G>A, NG_051975.1:g.5358G>A, NM_018404.3:c.79G>A, NM_018404.2:c.79G>A, NM_001346712.1:c.79G>A, NM_001346712.2:c.79G>A, NM_001346714.1:c.79G>A, NM_001346714.2:c.79G>A, NM_001346716.1:c.79G>A, NM_001346716.2:c.79G>A, NR_144488.1:n.358G>A, NR_144488.2:n.149G>A, NW_025791803.1:g.1267G>A, XM_024450832.2:c.79G>A, XM_024450832.1:c.79G>A, XM_024450833.2:c.79G>A, XM_024450833.1:c.79G>A, XM_024450834.2:c.79G>A, XM_024450834.1:c.79G>A, XM_024450835.2:c.-196G>A, XM_024450835.1:c.-196G>A, NP_060874.1:p.Asp27Asn, NP_001333641.1:p.Asp27Asn, NP_001333643.1:p.Asp27Asn, NP_001333645.1:p.Asp27Asn, XP_024306600.1:p.Asp27Asn, XP_024306601.1:p.Asp27Asn, XP_024306602.1:p.Asp27Asn

Select item 145915121210.

rs1459151212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:30945003 (GRCh38)
17:29272021 (GRCh37)
Canonical SPDI:: NC_000017.11:30945002:A:C
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30945003A>C, NC_000017.10:g.29272021A>C, NG_051975.1:g.28268A>C, NM_018404.3:c.607A>C, NM_018404.2:c.607A>C, NM_001346712.1:c.625A>C, NM_001346712.2:c.625A>C, NM_001346714.1:c.607A>C, NM_001346714.2:c.607A>C, NM_001346716.1:c.607A>C, NM_001346716.2:c.607A>C, NR_144488.1:n.806A>C, NR_144488.2:n.597A>C, NW_025791803.1:g.24177A>C, XM_024450832.2:c.625A>C, XM_024450832.1:c.625A>C, XM_024450833.2:c.625A>C, XM_024450833.1:c.625A>C, XM_024450834.2:c.625A>C, XM_024450834.1:c.625A>C, XM_024450835.2:c.241A>C, XM_024450835.1:c.241A>C

Select item 145765313111.

rs1457653131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30931890 (GRCh38)
17:29258908 (GRCh37)
Canonical SPDI:: NC_000017.11:30931889:G:A
Gene:: ADAP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30931890G>A, NC_000017.10:g.29258908G>A, NG_051975.1:g.15155G>A, NM_018404.3:c.319G>A, NM_018404.2:c.319G>A, NM_001346712.1:c.337G>A, NM_001346712.2:c.337G>A, NM_001346714.1:c.319G>A, NM_001346714.2:c.319G>A, NM_001346716.1:c.319G>A, NM_001346716.2:c.319G>A, NW_025791803.1:g.11064G>A, XM_024450832.2:c.337G>A, XM_024450832.1:c.337G>A, XM_024450833.2:c.337G>A, XM_024450833.1:c.337G>A, XM_024450834.2:c.337G>A, XM_024450834.1:c.337G>A, XM_024450835.2:c.-48G>A, XM_024450835.1:c.-48G>A, NP_060874.1:p.Val107Ile, NP_001333641.1:p.Val113Ile, NP_001333643.1:p.Val107Ile, NP_001333645.1:p.Val107Ile, XP_024306600.1:p.Val113Ile, XP_024306601.1:p.Val113Ile, XP_024306602.1:p.Val113Ile

Select item 145745111712.

rs1457451117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30923001 (GRCh38)
17:29250019 (GRCh37)
Canonical SPDI:: NC_000017.11:30923000:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.30923001C>T, NC_000017.10:g.29250019C>T, NG_051975.1:g.6266C>T, NM_018404.3:c.156C>T, NM_018404.2:c.156C>T, NM_001346712.1:c.156C>T, NM_001346712.2:c.156C>T, NM_001346714.1:c.156C>T, NM_001346714.2:c.156C>T, NM_001346716.1:c.156C>T, NM_001346716.2:c.156C>T, NR_144488.1:n.435C>T, NR_144488.2:n.226C>T, NW_025791803.1:g.2175C>T, XM_024450832.2:c.156C>T, XM_024450832.1:c.156C>T, XM_024450833.2:c.156C>T, XM_024450833.1:c.156C>T, XM_024450834.2:c.156C>T, XM_024450834.1:c.156C>T, XM_024450835.2:c.-119C>T, XM_024450835.1:c.-119C>T

Select item 145239358113.

rs1452393581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:30956445 (GRCh38)
17:29283463 (GRCh37)
Canonical SPDI:: NC_000017.11:30956444:C:G,NC_000017.11:30956444:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000212/4 (TOMMO)
HGVS:: NC_000017.11:g.30956445C>G, NC_000017.11:g.30956445C>T, NC_000017.10:g.29283463C>G, NC_000017.10:g.29283463C>T, NG_051975.1:g.39710C>G, NG_051975.1:g.39710C>T, NM_018404.3:c.1087C>G, NM_018404.3:c.1087C>T, NM_018404.2:c.1087C>G, NM_018404.2:c.1087C>T, NM_001346712.1:c.1105C>G, NM_001346712.1:c.1105C>T, NM_001346712.2:c.1105C>G, NM_001346712.2:c.1105C>T, NM_001346714.1:c.1084C>G, NM_001346714.1:c.1084C>T, NM_001346714.2:c.1084C>G, NM_001346714.2:c.1084C>T, NR_144488.1:n.1286C>G, NR_144488.1:n.1286C>T, NR_144488.2:n.1077C>G, NR_144488.2:n.1077C>T, NW_025791803.1:g.35619C>G, NW_025791803.1:g.35619C>T, XM_024450832.2:c.1102C>G, XM_024450832.2:c.1102C>T, XM_024450832.1:c.1102C>G, XM_024450832.1:c.1102C>T, XM_024450833.2:c.1042C>G, XM_024450833.2:c.1042C>T, XM_024450833.1:c.1042C>G, XM_024450833.1:c.1042C>T, XM_024450835.2:c.721C>G, XM_024450835.2:c.721C>T, XM_024450835.1:c.721C>G, XM_024450835.1:c.721C>T, NP_060874.1:p.Pro363Ala, NP_060874.1:p.Pro363Ser, NP_001333641.1:p.Pro369Ala, NP_001333641.1:p.Pro369Ser, NP_001333643.1:p.Pro362Ala, NP_001333643.1:p.Pro362Ser, XP_024306600.1:p.Pro368Ala, XP_024306600.1:p.Pro368Ser, XP_024306601.1:p.Pro348Ala, XP_024306601.1:p.Pro348Ser, XP_024306603.1:p.Pro241Ala, XP_024306603.1:p.Pro241Ser

Select item 145029542514.

rs1450295425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:30922082 (GRCh38)
17:29249100 (GRCh37)
Canonical SPDI:: NC_000017.11:30922081:C:G
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,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_000017.11:g.30922082C>G, NC_000017.10:g.29249100C>G, NG_051975.1:g.5347C>G, NM_018404.3:c.68C>G, NM_018404.2:c.68C>G, NM_001346712.1:c.68C>G, NM_001346712.2:c.68C>G, NM_001346714.1:c.68C>G, NM_001346714.2:c.68C>G, NM_001346716.1:c.68C>G, NM_001346716.2:c.68C>G, NR_144488.1:n.347C>G, NR_144488.2:n.138C>G, NW_025791803.1:g.1256C>G, XM_024450832.2:c.68C>G, XM_024450832.1:c.68C>G, XM_024450833.2:c.68C>G, XM_024450833.1:c.68C>G, XM_024450834.2:c.68C>G, XM_024450834.1:c.68C>G, XM_024450835.2:c.-207C>G, XM_024450835.1:c.-207C>G, NP_060874.1:p.Ala23Gly, NP_001333641.1:p.Ala23Gly, NP_001333643.1:p.Ala23Gly, NP_001333645.1:p.Ala23Gly, XP_024306600.1:p.Ala23Gly, XP_024306601.1:p.Ala23Gly, XP_024306602.1:p.Ala23Gly

Select item 145010505515.

rs1450105055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:30934276 (GRCh38)
17:29261294 (GRCh37)
Canonical SPDI:: NC_000017.11:30934275:G:A,NC_000017.11:30934275:G:T
Gene:: ADAP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30934276G>A, NC_000017.11:g.30934276G>T, NC_000017.10:g.29261294G>A, NC_000017.10:g.29261294G>T, NG_051975.1:g.17541G>A, NG_051975.1:g.17541G>T, NM_018404.3:c.489G>A, NM_018404.3:c.489G>T, NM_018404.2:c.489G>A, NM_018404.2:c.489G>T, NM_001346712.1:c.507G>A, NM_001346712.1:c.507G>T, NM_001346712.2:c.507G>A, NM_001346712.2:c.507G>T, NM_001346714.1:c.489G>A, NM_001346714.1:c.489G>T, NM_001346714.2:c.489G>A, NM_001346714.2:c.489G>T, NM_001346716.1:c.489G>A, NM_001346716.1:c.489G>T, NM_001346716.2:c.489G>A, NM_001346716.2:c.489G>T, NR_144488.1:n.688G>A, NR_144488.1:n.688G>T, NR_144488.2:n.479G>A, NR_144488.2:n.479G>T, NW_025791803.1:g.13450G>A, NW_025791803.1:g.13450G>T, XM_024450832.2:c.507G>A, XM_024450832.2:c.507G>T, XM_024450832.1:c.507G>A, XM_024450832.1:c.507G>T, XM_024450833.2:c.507G>A, XM_024450833.2:c.507G>T, XM_024450833.1:c.507G>A, XM_024450833.1:c.507G>T, XM_024450834.2:c.507G>A, XM_024450834.2:c.507G>T, XM_024450834.1:c.507G>A, XM_024450834.1:c.507G>T, XM_024450835.2:c.123G>A, XM_024450835.2:c.123G>T, XM_024450835.1:c.123G>A, XM_024450835.1:c.123G>T

Select item 145005005116.

rs1450050051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:30956319 (GRCh38)
17:29283337 (GRCh37)
Canonical SPDI:: NC_000017.11:30956318:A:C,NC_000017.11:30956318:A:G
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.30956319A>C, NC_000017.11:g.30956319A>G, NC_000017.10:g.29283337A>C, NC_000017.10:g.29283337A>G, NG_051975.1:g.39584A>C, NG_051975.1:g.39584A>G, NM_018404.3:c.961A>C, NM_018404.3:c.961A>G, NM_018404.2:c.961A>C, NM_018404.2:c.961A>G, NM_001346712.1:c.979A>C, NM_001346712.1:c.979A>G, NM_001346712.2:c.979A>C, NM_001346712.2:c.979A>G, NM_001346714.1:c.958A>C, NM_001346714.1:c.958A>G, NM_001346714.2:c.958A>C, NM_001346714.2:c.958A>G, NM_001346716.1:c.961A>C, NM_001346716.1:c.961A>G, NM_001346716.2:c.961A>C, NM_001346716.2:c.961A>G, NR_144488.1:n.1160A>C, NR_144488.1:n.1160A>G, NR_144488.2:n.951A>C, NR_144488.2:n.951A>G, NW_025791803.1:g.35493A>C, NW_025791803.1:g.35493A>G, XM_024450832.2:c.976A>C, XM_024450832.2:c.976A>G, XM_024450832.1:c.976A>C, XM_024450832.1:c.976A>G, XM_024450833.2:c.916A>C, XM_024450833.2:c.916A>G, XM_024450833.1:c.916A>C, XM_024450833.1:c.916A>G, XM_024450834.2:c.979A>C, XM_024450834.2:c.979A>G, XM_024450834.1:c.979A>C, XM_024450834.1:c.979A>G, XM_024450835.2:c.595A>C, XM_024450835.2:c.595A>G, XM_024450835.1:c.595A>C, XM_024450835.1:c.595A>G, NP_060874.1:p.Ile321Leu, NP_060874.1:p.Ile321Val, NP_001333641.1:p.Ile327Leu, NP_001333641.1:p.Ile327Val, NP_001333643.1:p.Ile320Leu, NP_001333643.1:p.Ile320Val, NP_001333645.1:p.Ile321Leu, NP_001333645.1:p.Ile321Val, XP_024306600.1:p.Ile326Leu, XP_024306600.1:p.Ile326Val, XP_024306601.1:p.Ile306Leu, XP_024306601.1:p.Ile306Val, XP_024306602.1:p.Ile327Leu, XP_024306602.1:p.Ile327Val, XP_024306603.1:p.Ile199Leu, XP_024306603.1:p.Ile199Val

Select item 144953335417.

rs1449533354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30934248 (GRCh38)
17:29261266 (GRCh37)
Canonical SPDI:: NC_000017.11:30934247:T:C
Gene:: ADAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30934248T>C, NC_000017.10:g.29261266T>C, NG_051975.1:g.17513T>C, NM_018404.3:c.461T>C, NM_018404.2:c.461T>C, NM_001346712.1:c.479T>C, NM_001346712.2:c.479T>C, NM_001346714.1:c.461T>C, NM_001346714.2:c.461T>C, NM_001346716.1:c.461T>C, NM_001346716.2:c.461T>C, NR_144488.1:n.660T>C, NR_144488.2:n.451T>C, NW_025791803.1:g.13422T>C, XM_024450832.2:c.479T>C, XM_024450832.1:c.479T>C, XM_024450833.2:c.479T>C, XM_024450833.1:c.479T>C, XM_024450834.2:c.479T>C, XM_024450834.1:c.479T>C, XM_024450835.2:c.95T>C, XM_024450835.1:c.95T>C, NP_060874.1:p.Phe154Ser, NP_001333641.1:p.Phe160Ser, NP_001333643.1:p.Phe154Ser, NP_001333645.1:p.Phe154Ser, XP_024306600.1:p.Phe160Ser, XP_024306601.1:p.Phe160Ser, XP_024306602.1:p.Phe160Ser, XP_024306603.1:p.Phe32Ser

Select item 144748247718.

rs1447482477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30956391 (GRCh38)
17:29283409 (GRCh37)
Canonical SPDI:: NC_000017.11:30956390:A:G
Gene:: ADAP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30956391A>G, NC_000017.10:g.29283409A>G, NG_051975.1:g.39656A>G, NM_018404.3:c.1033A>G, NM_018404.2:c.1033A>G, NM_001346712.1:c.1051A>G, NM_001346712.2:c.1051A>G, NM_001346714.1:c.1030A>G, NM_001346714.2:c.1030A>G, NM_001346716.1:c.1033A>G, NM_001346716.2:c.1033A>G, NR_144488.1:n.1232A>G, NR_144488.2:n.1023A>G, NW_025791803.1:g.35565A>G, XM_024450832.2:c.1048A>G, XM_024450832.1:c.1048A>G, XM_024450833.2:c.988A>G, XM_024450833.1:c.988A>G, XM_024450834.2:c.1051A>G, XM_024450834.1:c.1051A>G, XM_024450835.2:c.667A>G, XM_024450835.1:c.667A>G, NP_060874.1:p.Ser345Gly, NP_001333641.1:p.Ser351Gly, NP_001333643.1:p.Ser344Gly, NP_001333645.1:p.Thr345Ala, XP_024306600.1:p.Ser350Gly, XP_024306601.1:p.Ser330Gly, XP_024306602.1:p.Thr351Ala, XP_024306603.1:p.Ser223Gly

Select item 144738195019.

rs1447381950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30923010 (GRCh38)
17:29250028 (GRCh37)
Canonical SPDI:: NC_000017.11:30923009:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30923010C>T, NC_000017.10:g.29250028C>T, NG_051975.1:g.6275C>T, NM_018404.3:c.165C>T, NM_018404.2:c.165C>T, NM_001346712.1:c.165C>T, NM_001346712.2:c.165C>T, NM_001346714.1:c.165C>T, NM_001346714.2:c.165C>T, NM_001346716.1:c.165C>T, NM_001346716.2:c.165C>T, NR_144488.1:n.444C>T, NR_144488.2:n.235C>T, NW_025791803.1:g.2184C>T, XM_024450832.2:c.165C>T, XM_024450832.1:c.165C>T, XM_024450833.2:c.165C>T, XM_024450833.1:c.165C>T, XM_024450834.2:c.165C>T, XM_024450834.1:c.165C>T, XM_024450835.2:c.-110C>T, XM_024450835.1:c.-110C>T

Select item 144686410220.

rs1446864102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30944988 (GRCh38)
17:29272006 (GRCh37)
Canonical SPDI:: NC_000017.11:30944987:C:T
Gene:: ADAP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000017.11:g.30944988C>T, NC_000017.10:g.29272006C>T, NG_051975.1:g.28253C>T, NM_018404.3:c.592C>T, NM_018404.2:c.592C>T, NM_001346712.1:c.610C>T, NM_001346712.2:c.610C>T, NM_001346714.1:c.592C>T, NM_001346714.2:c.592C>T, NM_001346716.1:c.592C>T, NM_001346716.2:c.592C>T, NR_144488.1:n.791C>T, NR_144488.2:n.582C>T, NW_025791803.1:g.24162C>T, XM_024450832.2:c.610C>T, XM_024450832.1:c.610C>T, XM_024450833.2:c.610C>T, XM_024450833.1:c.610C>T, XM_024450834.2:c.610C>T, XM_024450834.1:c.610C>T, XM_024450835.2:c.226C>T, XM_024450835.1:c.226C>T

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 352

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