Canonical Allele Identifier: CA931735444

Gene: ABCC2

Linked Data

• dbSNP Id: rs2038721219
• gnomAD v3: 10-99830573-T-C
• gnomAD v4: 10-99830573-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830573T>C , CM000672.2:g.99830573T>C	GRCh38
NC_000010.10:g.101590330T>C , CM000672.1:g.101590330T>C	GRCh37
NC_000010.9:g.101580320T>C	NCBI36
NG_011798.1:g.52868T>C
NG_011798.2:g.52976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2747+140T>C MANE Select	ENSP00000497274.1:n.2747+140T>C
ENST00000370449.8:c.2747+140T>C	ENSP00000359478.4:n.2747+140T>C
NM_000392.4:c.2747+140T>C	NP_000383.1:n.2747+140T>C
XM_006717630.2:c.2051+140T>C	XP_006717693.1:n.2051+140T>C
XM_011539291.1:c.2747+140T>C	XP_011537593.1:n.2747+140T>C
XR_945604.1:n.2936+140T>C
XR_945605.1:n.2938+140T>C
NM_000392.5:c.2747+140T>C MANE Select	NP_000383.2:n.2747+140T>C
XM_006717630.3:c.2051+140T>C	XP_006717693.1:n.2051+140T>C
XM_011539291.3:c.2747+140T>C	XP_011537593.1:n.2747+140T>C
XR_945604.3:n.2990+140T>C
XR_945605.3:n.2990+140T>C