Canonical Allele Identifier: CA346670354

Gene: ABCG8

Linked Data

• dbSNP Id: rs748286386
• MyVariant Identifiers: chr2:g.44102360A>T (hg19) ; chr2:g.43875221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875221A>T , CM000664.2:g.43875221A>T	GRCh38
NC_000002.11:g.44102360A>T , CM000664.1:g.44102360A>T	GRCh37
NC_000002.10:g.43955864A>T	NCBI36
NG_008884.1:g.41258A>T
NG_008884.2:g.48280A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1564A>T MANE Select	ENSP00000272286.2:p.Arg522Trp
ENST00000272286.2:c.1564A>T	ENSP00000272286.2:p.Arg522Trp
NM_022437.2:c.1564A>T	NP_071882.1:p.Arg522Trp
XM_005264483.2:c.1561A>T	XP_005264540.1:p.Arg521Trp
XM_011533029.1:c.1576A>T	XP_011531331.1:p.Arg526Trp
XM_011533030.1:c.1573A>T	XP_011531332.1:p.Arg525Trp
XM_011533031.1:c.1348A>T	XP_011531333.1:p.Arg450Trp
XR_939707.1:n.2066A>T
NM_001357321.1:c.1561A>T	NP_001344250.1:p.Arg521Trp
XM_011533029.2:c.1576A>T	XP_011531331.1:p.Arg526Trp
XM_011533030.2:c.1573A>T	XP_011531332.1:p.Arg525Trp
XR_001738891.1:n.2080A>T
XR_939707.2:n.2080A>T
NM_022437.3:c.1564A>T MANE Select	NP_071882.1:p.Arg522Trp
NM_001357321.2:c.1561A>T	NP_001344250.1:p.Arg521Trp