Canonical Allele Identifier: CA346671500

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44105016A>C (hg19) ; chr2:g.43877877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877877A>C , CM000664.2:g.43877877A>C	GRCh38
NC_000002.11:g.44105016A>C , CM000664.1:g.44105016A>C	GRCh37
NC_000002.10:g.43958520A>C	NCBI36
NG_008884.1:g.43914A>C
NG_008884.2:g.50936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1986A>C MANE Select	ENSP00000272286.2:p.Leu662Phe
ENST00000272286.2:c.1986A>C	ENSP00000272286.2:p.Leu662Phe
NM_022437.2:c.1986A>C	NP_071882.1:p.Leu662Phe
XM_005264483.2:c.1983A>C	XP_005264540.1:p.Leu661Phe
XM_011533029.1:c.1998A>C	XP_011531331.1:p.Leu666Phe
XM_011533030.1:c.1995A>C	XP_011531332.1:p.Leu665Phe
XM_011533031.1:c.1770A>C	XP_011531333.1:p.Leu590Phe
XR_939707.1:n.2488A>C
NM_001357321.1:c.1983A>C	NP_001344250.1:p.Leu661Phe
XM_011533029.2:c.1998A>C	XP_011531331.1:p.Leu666Phe
XM_011533030.2:c.1995A>C	XP_011531332.1:p.Leu665Phe
XR_001738891.1:n.2502A>C
XR_939707.2:n.2502A>C
NM_022437.3:c.1986A>C MANE Select	NP_071882.1:p.Leu662Phe
NM_001357321.2:c.1983A>C	NP_001344250.1:p.Leu661Phe