Canonical Allele Identifier: CA378116685

Gene: ABCC2

Linked Data

• dbSNP Id: rs1448440047
• gnomAD v2: 10-101577150-A-C
• gnomAD v4: 10-99817393-A-C
• MyVariant Identifiers: chr10:g.101577150A>C (hg19) ; chr10:g.99817393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817393A>C , CM000672.2:g.99817393A>C	GRCh38
NC_000010.10:g.101577150A>C , CM000672.1:g.101577150A>C	GRCh37
NC_000010.9:g.101567140A>C	NCBI36
NG_011798.1:g.39688A>C
NG_011798.2:g.39796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2180A>C MANE Select	ENSP00000497274.1:p.Glu727Ala
ENST00000370449.8:c.2180A>C	ENSP00000359478.4:p.Glu727Ala
NM_000392.4:c.2180A>C	NP_000383.1:p.Glu727Ala
XM_006717630.2:c.1484A>C	XP_006717693.1:p.Glu495Ala
XM_006717631.2:c.2180A>C	XP_006717694.1:p.Glu727Ala
XM_011539291.1:c.2180A>C	XP_011537593.1:p.Glu727Ala
XR_945604.1:n.2369A>C
XR_945605.1:n.2371A>C
NM_000392.5:c.2180A>C MANE Select	NP_000383.2:p.Glu727Ala
XM_006717630.3:c.1484A>C	XP_006717693.1:p.Glu495Ala
XM_006717631.4:c.2180A>C	XP_006717694.1:p.Glu727Ala
XM_011539291.3:c.2180A>C	XP_011537593.1:p.Glu727Ala
XM_017015675.2:c.2180A>C	XP_016871164.1:p.Glu727Ala
XR_945604.3:n.2423A>C
XR_945605.3:n.2423A>C