Canonical Allele Identifier: CA346663646

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073419T>A (hg19) ; chr2:g.43846280T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846280T>A , CM000664.2:g.43846280T>A	GRCh38
NC_000002.11:g.44073419T>A , CM000664.1:g.44073419T>A	GRCh37
NC_000002.10:g.43926923T>A	NCBI36
NG_008884.1:g.12317T>A
NG_008884.2:g.19339T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.291T>A MANE Select	ENSP00000272286.2:p.Ser97Arg
ENST00000643284.1:n.748T>A
ENST00000644611.1:c.303T>A	ENSP00000495423.1:p.Ser101Arg
ENST00000272286.2:c.291T>A	ENSP00000272286.2:p.Ser97Arg
NM_022437.2:c.291T>A	NP_071882.1:p.Ser97Arg
XM_005264483.2:c.291T>A	XP_005264540.1:p.Ser97Arg
XM_011533029.1:c.303T>A	XP_011531331.1:p.Ser101Arg
XM_011533030.1:c.303T>A	XP_011531332.1:p.Ser101Arg
XM_011533031.1:c.75T>A	XP_011531333.1:p.Ser25Arg
XR_939707.1:n.793T>A
NM_001357321.1:c.291T>A	NP_001344250.1:p.Ser97Arg
XM_011533029.2:c.303T>A	XP_011531331.1:p.Ser101Arg
XM_011533030.2:c.303T>A	XP_011531332.1:p.Ser101Arg
XR_001738891.1:n.807T>A
XR_939707.2:n.807T>A
NM_022437.3:c.291T>A MANE Select	NP_071882.1:p.Ser97Arg
NM_001357321.2:c.291T>A	NP_001344250.1:p.Ser97Arg