Canonical Allele Identifier: CA346670211

Gene: ABCG8

Linked Data

• dbSNP Id: rs1364678304
• gnomAD v2: 2-44102292-G-T
• gnomAD v4: 2-43875153-G-T
• MyVariant Identifiers: chr2:g.44102292G>T (hg19) ; chr2:g.43875153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875153G>T , CM000664.2:g.43875153G>T	GRCh38
NC_000002.11:g.44102292G>T , CM000664.1:g.44102292G>T	GRCh37
NC_000002.10:g.43955796G>T	NCBI36
NG_008884.1:g.41190G>T
NG_008884.2:g.48212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1496G>T MANE Select	ENSP00000272286.2:p.Gly499Val
ENST00000272286.2:c.1496G>T	ENSP00000272286.2:p.Gly499Val
NM_022437.2:c.1496G>T	NP_071882.1:p.Gly499Val
XM_005264483.2:c.1493G>T	XP_005264540.1:p.Gly498Val
XM_011533029.1:c.1508G>T	XP_011531331.1:p.Gly503Val
XM_011533030.1:c.1505G>T	XP_011531332.1:p.Gly502Val
XM_011533031.1:c.1280G>T	XP_011531333.1:p.Gly427Val
XR_939707.1:n.1998G>T
NM_001357321.1:c.1493G>T	NP_001344250.1:p.Gly498Val
XM_011533029.2:c.1508G>T	XP_011531331.1:p.Gly503Val
XM_011533030.2:c.1505G>T	XP_011531332.1:p.Gly502Val
XR_001738891.1:n.2012G>T
XR_939707.2:n.2012G>T
NM_022437.3:c.1496G>T MANE Select	NP_071882.1:p.Gly499Val
NM_001357321.2:c.1493G>T	NP_001344250.1:p.Gly498Val