Canonical Allele Identifier: CA378128500

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101605525A>C (hg19) ; chr10:g.99845768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845768A>C , CM000672.2:g.99845768A>C	GRCh38
NC_000010.10:g.101605525A>C , CM000672.1:g.101605525A>C	GRCh37
NC_000010.9:g.101595515A>C	NCBI36
NG_011798.1:g.68063A>C
NG_011798.2:g.68171A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4132A>C MANE Select	ENSP00000497274.1:p.Thr1378Pro
ENST00000648523.1:c.20A>C
ENST00000649459.1:n.480A>C
ENST00000370449.8:c.4132A>C	ENSP00000359478.4:p.Thr1378Pro
NM_000392.4:c.4132A>C	NP_000383.1:p.Thr1378Pro
XM_006717630.2:c.3436A>C	XP_006717693.1:p.Thr1146Pro
XR_945604.1:n.4262A>C
XR_945605.1:n.4196A>C
NM_000392.5:c.4132A>C MANE Select	NP_000383.2:p.Thr1378Pro
XM_006717630.3:c.3436A>C	XP_006717693.1:p.Thr1146Pro
XR_945604.3:n.4316A>C
XR_945605.3:n.4248A>C