Canonical Allele Identifier: CA346670660

Gene: ABCG8

Linked Data

• dbSNP Id: rs1325979386
• gnomAD v2: 2-44102517-G-A
• gnomAD v4: 2-43875378-G-A
• COSMIC: COSM5736032
• MyVariant Identifiers: chr2:g.44102517G>A (hg19) ; chr2:g.43875378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875378G>A , CM000664.2:g.43875378G>A	GRCh38
NC_000002.11:g.44102517G>A , CM000664.1:g.44102517G>A	GRCh37
NC_000002.10:g.43956021G>A	NCBI36
NG_008884.1:g.41415G>A
NG_008884.2:g.48437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1721G>A MANE Select	ENSP00000272286.2:p.Gly574Glu
ENST00000272286.2:c.1721G>A	ENSP00000272286.2:p.Gly574Glu
NM_022437.2:c.1721G>A	NP_071882.1:p.Gly574Glu
XM_005264483.2:c.1718G>A	XP_005264540.1:p.Gly573Glu
XM_011533029.1:c.1733G>A	XP_011531331.1:p.Gly578Glu
XM_011533030.1:c.1730G>A	XP_011531332.1:p.Gly577Glu
XM_011533031.1:c.1505G>A	XP_011531333.1:p.Gly502Glu
XR_939707.1:n.2223G>A
NM_001357321.1:c.1718G>A	NP_001344250.1:p.Gly573Glu
XM_011533029.2:c.1733G>A	XP_011531331.1:p.Gly578Glu
XM_011533030.2:c.1730G>A	XP_011531332.1:p.Gly577Glu
XR_001738891.1:n.2237G>A
XR_939707.2:n.2237G>A
NM_022437.3:c.1721G>A MANE Select	NP_071882.1:p.Gly574Glu
NM_001357321.2:c.1718G>A	NP_001344250.1:p.Gly573Glu