Canonical Allele Identifier: CA931736467

Gene: ABCC2

Linked Data

• dbSNP Id: rs2038823559
• gnomAD v3: 10-99836299-TC-T
• gnomAD v4: 10-99836299-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836303del , CM000672.2:g.99836303del	GRCh38
NC_000010.10:g.101596060del , CM000672.1:g.101596060del	GRCh37
NC_000010.9:g.101586050del	NCBI36
NG_011798.1:g.58598del
NG_011798.2:g.58706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3614+13del MANE Select	ENSP00000497274.1:n.3614+13del
ENST00000370449.8:c.3614+13del	ENSP00000359478.4:n.3614+13del
NM_000392.4:c.3614+13del	NP_000383.1:n.3614+13del
XM_006717630.2:c.2918+13del	XP_006717693.1:n.2918+13del
XR_945604.1:n.3803+13del
XR_945605.1:n.3805+13del
NM_000392.5:c.3614+13del MANE Select	NP_000383.2:n.3614+13del
XM_006717630.3:c.2918+13del	XP_006717693.1:n.2918+13del
XR_945604.3:n.3857+13del
XR_945605.3:n.3857+13del