Canonical Allele Identifier: CA378124476

Gene: ABCC2

Linked Data

• dbSNP Id: rs1564697605
• gnomAD v2: 10-101595902-T-C
• gnomAD v4: 10-99836145-T-C
• MyVariant Identifiers: chr10:g.101595902T>C (hg19) ; chr10:g.101595902_101595904delinsCCC (hg19) ; chr10:g.99836145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836145T>C , CM000672.2:g.99836145T>C	GRCh38
NC_000010.10:g.101595902T>C , CM000672.1:g.101595902T>C	GRCh37
NC_000010.9:g.101585892T>C	NCBI36
NG_011798.1:g.58440T>C
NG_011798.2:g.58548T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3469T>C MANE Select	ENSP00000497274.1:p.Ser1157Pro
ENST00000370449.8:c.3469T>C	ENSP00000359478.4:p.Ser1157Pro
NM_000392.4:c.3469T>C	NP_000383.1:p.Ser1157Pro
XM_006717630.2:c.2773T>C	XP_006717693.1:p.Ser925Pro
XR_945604.1:n.3658T>C
XR_945605.1:n.3660T>C
NM_000392.5:c.3469T>C MANE Select	NP_000383.2:p.Ser1157Pro
XM_006717630.3:c.2773T>C	XP_006717693.1:p.Ser925Pro
XR_945604.3:n.3712T>C
XR_945605.3:n.3712T>C