Canonical Allele Identifier: CA5643447

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 595166
• ClinVar RCV Id: RCV000730645 ; RCV003953316
• dbSNP Id: rs762655590
• ExAC: 10:101578581 T / C
• gnomAD v4: 10-99818824-T-C
• MyVariant Identifiers: chr10:g.101578581T>C (hg19) ; chr10:g.99818824T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99818824T>C , CM000672.2:g.99818824T>C	GRCh38
NC_000010.10:g.101578581T>C , CM000672.1:g.101578581T>C	GRCh37
NC_000010.9:g.101568571T>C	NCBI36
NG_011798.1:g.41119T>C
NG_011798.2:g.41227T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2306T>C MANE Select	ENSP00000497274.1:p.Ile769Thr
ENST00000370449.8:c.2306T>C	ENSP00000359478.4:p.Ile769Thr
NM_000392.4:c.2306T>C	NP_000383.1:p.Ile769Thr
XM_006717630.2:c.1610T>C	XP_006717693.1:p.Ile537Thr
XM_006717631.2:c.2306T>C	XP_006717694.1:p.Ile769Thr
XM_011539291.1:c.2306T>C	XP_011537593.1:p.Ile769Thr
XR_945604.1:n.2495T>C
XR_945605.1:n.2497T>C
NM_000392.5:c.2306T>C MANE Select	NP_000383.2:p.Ile769Thr
XM_006717630.3:c.1610T>C	XP_006717693.1:p.Ile537Thr
XM_006717631.4:c.2306T>C	XP_006717694.1:p.Ile769Thr
XM_011539291.3:c.2306T>C	XP_011537593.1:p.Ile769Thr
XM_017015675.2:c.2306T>C	XP_016871164.1:p.Ile769Thr
XR_945604.3:n.2549T>C
XR_945605.3:n.2549T>C