Canonical Allele Identifier: CA46470786

Gene: ABCG8

Linked Data

• dbSNP Id: rs937532657
• gnomAD v2: 2-44102303-G-A
• gnomAD v3: 2-43875164-G-A
• gnomAD v4: 2-43875164-G-A
• MyVariant Identifiers: chr2:g.44102303G>A (hg19) ; chr2:g.43875164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875164G>A , CM000664.2:g.43875164G>A	GRCh38
NC_000002.11:g.44102303G>A , CM000664.1:g.44102303G>A	GRCh37
NC_000002.10:g.43955807G>A	NCBI36
NG_008884.1:g.41201G>A
NG_008884.2:g.48223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1507G>A MANE Select	ENSP00000272286.2:p.Glu503Lys
ENST00000272286.2:c.1507G>A	ENSP00000272286.2:p.Glu503Lys
NM_022437.2:c.1507G>A	NP_071882.1:p.Glu503Lys
XM_005264483.2:c.1504G>A	XP_005264540.1:p.Glu502Lys
XM_011533029.1:c.1519G>A	XP_011531331.1:p.Glu507Lys
XM_011533030.1:c.1516G>A	XP_011531332.1:p.Glu506Lys
XM_011533031.1:c.1291G>A	XP_011531333.1:p.Glu431Lys
XR_939707.1:n.2009G>A
NM_001357321.1:c.1504G>A	NP_001344250.1:p.Glu502Lys
XM_011533029.2:c.1519G>A	XP_011531331.1:p.Glu507Lys
XM_011533030.2:c.1516G>A	XP_011531332.1:p.Glu506Lys
XR_001738891.1:n.2023G>A
XR_939707.2:n.2023G>A
NM_022437.3:c.1507G>A MANE Select	NP_071882.1:p.Glu503Lys
NM_001357321.2:c.1504G>A	NP_001344250.1:p.Glu502Lys