Canonical Allele Identifier: CA5643857
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs749084548
ExAC: 10:101596019 T / G
gnomAD v2: 10-101596019-T-G
gnomAD v3: 10-99836262-T-G
gnomAD v4: 10-99836262-T-G
MyVariant Identifiers: chr10:g.101596019T>G (hg19) chr10:g.99836262T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836262T>G , CM000672.2:g.99836262T>G GRCh38
NC_000010.10:g.101596019T>G , CM000672.1:g.101596019T>G GRCh37
NC_000010.9:g.101586009T>G NCBI36
NG_011798.1:g.58557T>G
NG_011798.2:g.58665T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3586T>G MANE Select ENSP00000497274.1:p.Cys1196Gly
ENST00000370449.8:c.3586T>G ENSP00000359478.4:p.Cys1196Gly
NM_000392.4:c.3586T>G NP_000383.1:p.Cys1196Gly
XM_006717630.2:c.2890T>G XP_006717693.1:p.Cys964Gly
XR_945604.1:n.3775T>G
XR_945605.1:n.3777T>G
NM_000392.5:c.3586T>G MANE Select NP_000383.2:p.Cys1196Gly
XM_006717630.3:c.2890T>G XP_006717693.1:p.Cys964Gly
XR_945604.3:n.3829T>G
XR_945605.3:n.3829T>G
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