Canonical Allele Identifier: CA212867202
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs972633238
gnomAD v4: 10-99844404-A-G
COSMIC: COSM3741457
MyVariant Identifiers: chr10:g.101604161A>G (hg19) chr10:g.99844404A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844404A>G , CM000672.2:g.99844404A>G GRCh38
NC_000010.10:g.101604161A>G , CM000672.1:g.101604161A>G GRCh37
NC_000010.9:g.101594151A>G NCBI36
NG_011798.1:g.66699A>G
NG_011798.2:g.66807A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3926A>G MANE Select ENSP00000497274.1:p.Tyr1309Cys
ENST00000649459.1:n.274A>G
ENST00000370449.8:c.3926A>G ENSP00000359478.4:p.Tyr1309Cys
NM_000392.4:c.3926A>G NP_000383.1:p.Tyr1309Cys
XM_006717630.2:c.3230A>G XP_006717693.1:p.Tyr1077Cys
XR_945604.1:n.4115A>G
XR_945605.1:n.3990A>G
NM_000392.5:c.3926A>G MANE Select NP_000383.2:p.Tyr1309Cys
XM_006717630.3:c.3230A>G XP_006717693.1:p.Tyr1077Cys
XR_945604.3:n.4169A>G
XR_945605.3:n.4042A>G
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