Canonical Allele Identifier: CA346671625

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44105047T>A (hg19) ; chr2:g.43877908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877908T>A , CM000664.2:g.43877908T>A	GRCh38
NC_000002.11:g.44105047T>A , CM000664.1:g.44105047T>A	GRCh37
NC_000002.10:g.43958551T>A	NCBI36
NG_008884.1:g.43945T>A
NG_008884.2:g.50967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.2017T>A MANE Select	ENSP00000272286.2:p.Trp673Arg
ENST00000272286.2:c.2017T>A	ENSP00000272286.2:p.Trp673Arg
NM_022437.2:c.2017T>A	NP_071882.1:p.Trp673Arg
XM_005264483.2:c.2014T>A	XP_005264540.1:p.Trp672Arg
XM_011533029.1:c.2029T>A	XP_011531331.1:p.Trp677Arg
XM_011533030.1:c.2026T>A	XP_011531332.1:p.Trp676Arg
XM_011533031.1:c.1801T>A	XP_011531333.1:p.Trp601Arg
XR_939707.1:n.2519T>A
NM_001357321.1:c.2014T>A	NP_001344250.1:p.Trp672Arg
XM_011533029.2:c.2029T>A	XP_011531331.1:p.Trp677Arg
XM_011533030.2:c.2026T>A	XP_011531332.1:p.Trp676Arg
XR_001738891.1:n.2533T>A
XR_939707.2:n.2533T>A
NM_022437.3:c.2017T>A MANE Select	NP_071882.1:p.Trp673Arg
NM_001357321.2:c.2014T>A	NP_001344250.1:p.Trp672Arg