Canonical Allele Identifier: CA346670247

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875171-G-A
• MyVariant Identifiers: chr2:g.44102310G>A (hg19) ; chr2:g.43875171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875171G>A , CM000664.2:g.43875171G>A	GRCh38
NC_000002.11:g.44102310G>A , CM000664.1:g.44102310G>A	GRCh37
NC_000002.10:g.43955814G>A	NCBI36
NG_008884.1:g.41208G>A
NG_008884.2:g.48230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1514G>A MANE Select	ENSP00000272286.2:p.Cys505Tyr
ENST00000272286.2:c.1514G>A	ENSP00000272286.2:p.Cys505Tyr
NM_022437.2:c.1514G>A	NP_071882.1:p.Cys505Tyr
XM_005264483.2:c.1511G>A	XP_005264540.1:p.Cys504Tyr
XM_011533029.1:c.1526G>A	XP_011531331.1:p.Cys509Tyr
XM_011533030.1:c.1523G>A	XP_011531332.1:p.Cys508Tyr
XM_011533031.1:c.1298G>A	XP_011531333.1:p.Cys433Tyr
XR_939707.1:n.2016G>A
NM_001357321.1:c.1511G>A	NP_001344250.1:p.Cys504Tyr
XM_011533029.2:c.1526G>A	XP_011531331.1:p.Cys509Tyr
XM_011533030.2:c.1523G>A	XP_011531332.1:p.Cys508Tyr
XR_001738891.1:n.2030G>A
XR_939707.2:n.2030G>A
NM_022437.3:c.1514G>A MANE Select	NP_071882.1:p.Cys505Tyr
NM_001357321.2:c.1511G>A	NP_001344250.1:p.Cys504Tyr