Canonical Allele Identifier: CA378116744

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101577163G>C (hg19) ; chr10:g.99817406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817406G>C , CM000672.2:g.99817406G>C	GRCh38
NC_000010.10:g.101577163G>C , CM000672.1:g.101577163G>C	GRCh37
NC_000010.9:g.101567153G>C	NCBI36
NG_011798.1:g.39701G>C
NG_011798.2:g.39809G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2193G>C MANE Select	ENSP00000497274.1:p.Gln731His
ENST00000370449.8:c.2193G>C	ENSP00000359478.4:p.Gln731His
NM_000392.4:c.2193G>C	NP_000383.1:p.Gln731His
XM_006717630.2:c.1497G>C	XP_006717693.1:p.Gln499His
XM_006717631.2:c.2193G>C	XP_006717694.1:p.Gln731His
XM_011539291.1:c.2193G>C	XP_011537593.1:p.Gln731His
XR_945604.1:n.2382G>C
XR_945605.1:n.2384G>C
NM_000392.5:c.2193G>C MANE Select	NP_000383.2:p.Gln731His
XM_006717630.3:c.1497G>C	XP_006717693.1:p.Gln499His
XM_006717631.4:c.2193G>C	XP_006717694.1:p.Gln731His
XM_011539291.3:c.2193G>C	XP_011537593.1:p.Gln731His
XM_017015675.2:c.2193G>C	XP_016871164.1:p.Gln731His
XR_945604.3:n.2436G>C
XR_945605.3:n.2436G>C