Canonical Allele Identifier: CA346670606

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102489G>A (hg19) ; chr2:g.43875350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875350G>A , CM000664.2:g.43875350G>A	GRCh38
NC_000002.11:g.44102489G>A , CM000664.1:g.44102489G>A	GRCh37
NC_000002.10:g.43955993G>A	NCBI36
NG_008884.1:g.41387G>A
NG_008884.2:g.48409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1693G>A MANE Select	ENSP00000272286.2:p.Ala565Thr
ENST00000272286.2:c.1693G>A	ENSP00000272286.2:p.Ala565Thr
NM_022437.2:c.1693G>A	NP_071882.1:p.Ala565Thr
XM_005264483.2:c.1690G>A	XP_005264540.1:p.Ala564Thr
XM_011533029.1:c.1705G>A	XP_011531331.1:p.Ala569Thr
XM_011533030.1:c.1702G>A	XP_011531332.1:p.Ala568Thr
XM_011533031.1:c.1477G>A	XP_011531333.1:p.Ala493Thr
XR_939707.1:n.2195G>A
NM_001357321.1:c.1690G>A	NP_001344250.1:p.Ala564Thr
XM_011533029.2:c.1705G>A	XP_011531331.1:p.Ala569Thr
XM_011533030.2:c.1702G>A	XP_011531332.1:p.Ala568Thr
XR_001738891.1:n.2209G>A
XR_939707.2:n.2209G>A
NM_022437.3:c.1693G>A MANE Select	NP_071882.1:p.Ala565Thr
NM_001357321.2:c.1690G>A	NP_001344250.1:p.Ala564Thr