Canonical Allele Identifier: CA378120706

Gene: ABCC2

Linked Data

• dbSNP Id: rs1564694665
• gnomAD v4: 10-99830379-C-T
• MyVariant Identifiers: chr10:g.101590136C>T (hg19) ; chr10:g.99830379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830379C>T , CM000672.2:g.99830379C>T	GRCh38
NC_000010.10:g.101590136C>T , CM000672.1:g.101590136C>T	GRCh37
NC_000010.9:g.101580126C>T	NCBI36
NG_011798.1:g.52674C>T
NG_011798.2:g.52782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2693C>T MANE Select	ENSP00000497274.1:p.Ala898Val
ENST00000370449.8:c.2693C>T	ENSP00000359478.4:p.Ala898Val
NM_000392.4:c.2693C>T	NP_000383.1:p.Ala898Val
XM_006717630.2:c.1997C>T	XP_006717693.1:p.Ala666Val
XM_006717631.2:c.*120C>T	XP_006717694.1:n.*120C>T
XM_011539291.1:c.2693C>T	XP_011537593.1:p.Ala898Val
XR_945604.1:n.2882C>T
XR_945605.1:n.2884C>T
NM_000392.5:c.2693C>T MANE Select	NP_000383.2:p.Ala898Val
XM_006717630.3:c.1997C>T	XP_006717693.1:p.Ala666Val
XM_006717631.4:c.*120C>T	XP_006717694.1:n.*120C>T
XM_011539291.3:c.2693C>T	XP_011537593.1:p.Ala898Val
XR_945604.3:n.2936C>T
XR_945605.3:n.2936C>T