Canonical Allele Identifier: CA595453626

Gene: ABCC2

Linked Data

• dbSNP Id: rs1384275865
• gnomAD v2: 10-101604419-GC-G
• MyVariant Identifiers: chr10:g.101604420del (hg19) ; chr10:g.99844663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844663del , CM000672.2:g.99844663del	GRCh38
NC_000010.10:g.101604420del , CM000672.1:g.101604420del	GRCh37
NC_000010.9:g.101594410del	NCBI36
NG_011798.1:g.66958del
NG_011798.2:g.67066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+198del MANE Select	ENSP00000497274.1:n.3987+198del
ENST00000649459.1:n.335+198del
ENST00000370449.8:c.3987+198del	ENSP00000359478.4:n.3987+198del
NM_000392.4:c.3987+198del	NP_000383.1:n.3987+198del
XM_006717630.2:c.3291+198del	XP_006717693.1:n.3291+198del
XR_945604.1:n.4176+198del
XR_945605.1:n.4051+198del
NM_000392.5:c.3987+198del MANE Select	NP_000383.2:n.3987+198del
XM_006717630.3:c.3291+198del	XP_006717693.1:n.3291+198del
XR_945604.3:n.4230+198del
XR_945605.3:n.4103+198del