Canonical Allele Identifier: CA1637733

Gene: ABCG8

Linked Data

• dbSNP Id: rs747480829
• ExAC: 2:44105017 A / G
• gnomAD v2: 2-44105017-A-G
• gnomAD v4: 2-43877878-A-G
• MyVariant Identifiers: chr2:g.44105017A>G (hg19) ; chr2:g.43877878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877878A>G , CM000664.2:g.43877878A>G	GRCh38
NC_000002.11:g.44105017A>G , CM000664.1:g.44105017A>G	GRCh37
NC_000002.10:g.43958521A>G	NCBI36
NG_008884.1:g.43915A>G
NG_008884.2:g.50937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1987A>G MANE Select	ENSP00000272286.2:p.Arg663Gly
ENST00000272286.2:c.1987A>G	ENSP00000272286.2:p.Arg663Gly
NM_022437.2:c.1987A>G	NP_071882.1:p.Arg663Gly
XM_005264483.2:c.1984A>G	XP_005264540.1:p.Arg662Gly
XM_011533029.1:c.1999A>G	XP_011531331.1:p.Arg667Gly
XM_011533030.1:c.1996A>G	XP_011531332.1:p.Arg666Gly
XM_011533031.1:c.1771A>G	XP_011531333.1:p.Arg591Gly
XR_939707.1:n.2489A>G
NM_001357321.1:c.1984A>G	NP_001344250.1:p.Arg662Gly
XM_011533029.2:c.1999A>G	XP_011531331.1:p.Arg667Gly
XM_011533030.2:c.1996A>G	XP_011531332.1:p.Arg666Gly
XR_001738891.1:n.2503A>G
XR_939707.2:n.2503A>G
NM_022437.3:c.1987A>G MANE Select	NP_071882.1:p.Arg663Gly
NM_001357321.2:c.1984A>G	NP_001344250.1:p.Arg662Gly