Canonical Allele Identifier: CA471131300

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 3061583
• ClinVar RCV Id: RCV003983591
• dbSNP Id: rs2038715323
• gnomAD v4: 10-99830311-T-C
• MyVariant Identifiers: chr10:g.101590068T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830311T>C , CM000672.2:g.99830311T>C	GRCh38
NC_000010.10:g.101590068T>C , CM000672.1:g.101590068T>C	GRCh37
NC_000010.9:g.101580058T>C	NCBI36
NG_011798.1:g.52606T>C
NG_011798.2:g.52714T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2625T>C MANE Select	ENSP00000497274.1:p.His875=
ENST00000370449.8:c.2625T>C	ENSP00000359478.4:p.His875=
NM_000392.4:c.2625T>C	NP_000383.1:p.His875=
XM_006717630.2:c.1929T>C	XP_006717693.1:p.His643=
XM_006717631.2:c.*52T>C	XP_006717694.1:n.*52T>C
XM_011539291.1:c.2625T>C	XP_011537593.1:p.His875=
XR_945604.1:n.2814T>C
XR_945605.1:n.2816T>C
NM_000392.5:c.2625T>C MANE Select	NP_000383.2:p.His875=
XM_006717630.3:c.1929T>C	XP_006717693.1:p.His643=
XM_006717631.4:c.*52T>C	XP_006717694.1:n.*52T>C
XM_011539291.3:c.2625T>C	XP_011537593.1:p.His875=
XR_945604.3:n.2868T>C
XR_945605.3:n.2868T>C