Canonical Allele Identifier: CA5643858
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs768373392
ExAC: 10:101596022 G / C
gnomAD v2: 10-101596022-G-C
gnomAD v4: 10-99836265-G-C
MyVariant Identifiers: chr10:g.101596022G>C (hg19) chr10:g.101596022_101596027delinsCTCTTT (hg19) chr10:g.99836265G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836265G>C , CM000672.2:g.99836265G>C GRCh38
NC_000010.10:g.101596022G>C , CM000672.1:g.101596022G>C GRCh37
NC_000010.9:g.101586012G>C NCBI36
NG_011798.1:g.58560G>C
NG_011798.2:g.58668G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3589G>C MANE Select ENSP00000497274.1:p.Val1197Leu
ENST00000370449.8:c.3589G>C ENSP00000359478.4:p.Val1197Leu
NM_000392.4:c.3589G>C NP_000383.1:p.Val1197Leu
XM_006717630.2:c.2893G>C XP_006717693.1:p.Val965Leu
XR_945604.1:n.3778G>C
XR_945605.1:n.3780G>C
NM_000392.5:c.3589G>C MANE Select NP_000383.2:p.Val1197Leu
XM_006717630.3:c.2893G>C XP_006717693.1:p.Val965Leu
XR_945604.3:n.3832G>C
XR_945605.3:n.3832G>C
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