Canonical Allele Identifier: CA426116401

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1776760
• ClinVar RCV Id: RCV002401218
• dbSNP Id: rs201690654
• MyVariant Identifiers: chr2:g.44102425G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875286G>A , CM000664.2:g.43875286G>A	GRCh38
NC_000002.11:g.44102425G>A , CM000664.1:g.44102425G>A	GRCh37
NC_000002.10:g.43955929G>A	NCBI36
NG_008884.1:g.41323G>A
NG_008884.2:g.48345G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1629G>A MANE Select	ENSP00000272286.2:p.Arg543=
ENST00000272286.2:c.1629G>A	ENSP00000272286.2:p.Arg543=
NM_022437.2:c.1629G>A	NP_071882.1:p.Arg543=
XM_005264483.2:c.1626G>A	XP_005264540.1:p.Arg542=
XM_011533029.1:c.1641G>A	XP_011531331.1:p.Arg547=
XM_011533030.1:c.1638G>A	XP_011531332.1:p.Arg546=
XM_011533031.1:c.1413G>A	XP_011531333.1:p.Arg471=
XR_939707.1:n.2131G>A
NM_001357321.1:c.1626G>A	NP_001344250.1:p.Arg542=
XM_011533029.2:c.1641G>A	XP_011531331.1:p.Arg547=
XM_011533030.2:c.1638G>A	XP_011531332.1:p.Arg546=
XR_001738891.1:n.2145G>A
XR_939707.2:n.2145G>A
NM_022437.3:c.1629G>A MANE Select	NP_071882.1:p.Arg543=
NM_001357321.2:c.1626G>A	NP_001344250.1:p.Arg542=