Canonical Allele Identifier: CA378120321

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 2110158
• ClinVar RCV Id: RCV003032054
• MyVariant Identifiers: chr10:g.101590069G>C (hg19) ; chr10:g.99830312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830312G>C , CM000672.2:g.99830312G>C	GRCh38
NC_000010.10:g.101590069G>C , CM000672.1:g.101590069G>C	GRCh37
NC_000010.9:g.101580059G>C	NCBI36
NG_011798.1:g.52607G>C
NG_011798.2:g.52715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2626G>C MANE Select	ENSP00000497274.1:p.Asp876His
ENST00000370449.8:c.2626G>C	ENSP00000359478.4:p.Asp876His
NM_000392.4:c.2626G>C	NP_000383.1:p.Asp876His
XM_006717630.2:c.1930G>C	XP_006717693.1:p.Asp644His
XM_006717631.2:c.*53G>C	XP_006717694.1:n.*53G>C
XM_011539291.1:c.2626G>C	XP_011537593.1:p.Asp876His
XR_945604.1:n.2815G>C
XR_945605.1:n.2817G>C
NM_000392.5:c.2626G>C MANE Select	NP_000383.2:p.Asp876His
XM_006717630.3:c.1930G>C	XP_006717693.1:p.Asp644His
XM_006717631.4:c.*53G>C	XP_006717694.1:n.*53G>C
XM_011539291.3:c.2626G>C	XP_011537593.1:p.Asp876His
XR_945604.3:n.2869G>C
XR_945605.3:n.2869G>C