Canonical Allele Identifier: CA425908122

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875157-G-A
• MyVariant Identifiers: chr2:g.44102296G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875157G>A , CM000664.2:g.43875157G>A	GRCh38
NC_000002.11:g.44102296G>A , CM000664.1:g.44102296G>A	GRCh37
NC_000002.10:g.43955800G>A	NCBI36
NG_008884.1:g.41194G>A
NG_008884.2:g.48216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1500G>A MANE Select	ENSP00000272286.2:p.Glu500=
ENST00000272286.2:c.1500G>A	ENSP00000272286.2:p.Glu500=
NM_022437.2:c.1500G>A	NP_071882.1:p.Glu500=
XM_005264483.2:c.1497G>A	XP_005264540.1:p.Glu499=
XM_011533029.1:c.1512G>A	XP_011531331.1:p.Glu504=
XM_011533030.1:c.1509G>A	XP_011531332.1:p.Glu503=
XM_011533031.1:c.1284G>A	XP_011531333.1:p.Glu428=
XR_939707.1:n.2002G>A
NM_001357321.1:c.1497G>A	NP_001344250.1:p.Glu499=
XM_011533029.2:c.1512G>A	XP_011531331.1:p.Glu504=
XM_011533030.2:c.1509G>A	XP_011531332.1:p.Glu503=
XR_001738891.1:n.2016G>A
XR_939707.2:n.2016G>A
NM_022437.3:c.1500G>A MANE Select	NP_071882.1:p.Glu500=
NM_001357321.2:c.1497G>A	NP_001344250.1:p.Glu499=