Canonical Allele Identifier: CA378127798

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99845634-T-C
• MyVariant Identifiers: chr10:g.101605391T>C (hg19) ; chr10:g.99845634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845634T>C , CM000672.2:g.99845634T>C	GRCh38
NC_000010.10:g.101605391T>C , CM000672.1:g.101605391T>C	GRCh37
NC_000010.9:g.101595381T>C	NCBI36
NG_011798.1:g.67929T>C
NG_011798.2:g.68037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3998T>C MANE Select	ENSP00000497274.1:p.Val1333Ala
ENST00000649459.1:n.346T>C
ENST00000370449.8:c.3998T>C	ENSP00000359478.4:p.Val1333Ala
NM_000392.4:c.3998T>C	NP_000383.1:p.Val1333Ala
XM_006717630.2:c.3302T>C	XP_006717693.1:p.Val1101Ala
XR_945604.1:n.4177-49T>C
XR_945605.1:n.4062T>C
NM_000392.5:c.3998T>C MANE Select	NP_000383.2:p.Val1333Ala
XM_006717630.3:c.3302T>C	XP_006717693.1:p.Val1101Ala
XR_945604.3:n.4231-49T>C
XR_945605.3:n.4114T>C