Canonical Allele Identifier: CA378127431

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101604179T>C (hg19) ; chr10:g.99844422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844422T>C , CM000672.2:g.99844422T>C	GRCh38
NC_000010.10:g.101604179T>C , CM000672.1:g.101604179T>C	GRCh37
NC_000010.9:g.101594169T>C	NCBI36
NG_011798.1:g.66717T>C
NG_011798.2:g.66825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3944T>C MANE Select	ENSP00000497274.1:p.Leu1315Pro
ENST00000649459.1:n.292T>C
ENST00000370449.8:c.3944T>C	ENSP00000359478.4:p.Leu1315Pro
NM_000392.4:c.3944T>C	NP_000383.1:p.Leu1315Pro
XM_006717630.2:c.3248T>C	XP_006717693.1:p.Leu1083Pro
XR_945604.1:n.4133T>C
XR_945605.1:n.4008T>C
NM_000392.5:c.3944T>C MANE Select	NP_000383.2:p.Leu1315Pro
XM_006717630.3:c.3248T>C	XP_006717693.1:p.Leu1083Pro
XR_945604.3:n.4187T>C
XR_945605.3:n.4060T>C