Canonical Allele Identifier: CA931735449

Gene: ABCC2

Linked Data

• dbSNP Id: rs2038721921
• gnomAD v3: 10-99830616-C-T
• gnomAD v4: 10-99830616-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830616C>T , CM000672.2:g.99830616C>T	GRCh38
NC_000010.10:g.101590373C>T , CM000672.1:g.101590373C>T	GRCh37
NC_000010.9:g.101580363C>T	NCBI36
NG_011798.1:g.52911C>T
NG_011798.2:g.53019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2748-100C>T MANE Select	ENSP00000497274.1:n.2748-100C>T
ENST00000370449.8:c.2748-100C>T	ENSP00000359478.4:n.2748-100C>T
NM_000392.4:c.2748-100C>T	NP_000383.1:n.2748-100C>T
XM_006717630.2:c.2052-100C>T	XP_006717693.1:n.2052-100C>T
XM_011539291.1:c.2747+183C>T	XP_011537593.1:n.2747+183C>T
XR_945604.1:n.2937-100C>T
XR_945605.1:n.2939-100C>T
NM_000392.5:c.2748-100C>T MANE Select	NP_000383.2:n.2748-100C>T
XM_006717630.3:c.2052-100C>T	XP_006717693.1:n.2052-100C>T
XM_011539291.3:c.2747+183C>T	XP_011537593.1:n.2747+183C>T
XR_945604.3:n.2991-100C>T
XR_945605.3:n.2991-100C>T