Canonical Allele Identifier: CA5643816

Gene: ABCC2

Linked Data

• dbSNP Id: rs772719042
• ExAC: 10:101595889 C / T
• gnomAD v2: 10-101595889-C-T
• gnomAD v4: 10-99836132-C-T
• MyVariant Identifiers: chr10:g.101595889C>T (hg19) ; chr10:g.99836132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836132C>T , CM000672.2:g.99836132C>T	GRCh38
NC_000010.10:g.101595889C>T , CM000672.1:g.101595889C>T	GRCh37
NC_000010.9:g.101585879C>T	NCBI36
NG_011798.1:g.58427C>T
NG_011798.2:g.58535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3456C>T MANE Select	ENSP00000497274.1:p.Asp1152=
ENST00000370449.8:c.3456C>T	ENSP00000359478.4:p.Asp1152=
NM_000392.4:c.3456C>T	NP_000383.1:p.Asp1152=
XM_006717630.2:c.2760C>T	XP_006717693.1:p.Asp920=
XR_945604.1:n.3645C>T
XR_945605.1:n.3647C>T
NM_000392.5:c.3456C>T MANE Select	NP_000383.2:p.Asp1152=
XM_006717630.3:c.2760C>T	XP_006717693.1:p.Asp920=
XR_945604.3:n.3699C>T
XR_945605.3:n.3699C>T