Canonical Allele Identifier: CA346663590

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846255-A-G
• MyVariant Identifiers: chr2:g.44073394A>G (hg19) ; chr2:g.43846255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846255A>G , CM000664.2:g.43846255A>G	GRCh38
NC_000002.11:g.44073394A>G , CM000664.1:g.44073394A>G	GRCh37
NC_000002.10:g.43926898A>G	NCBI36
NG_008884.1:g.12292A>G
NG_008884.2:g.19314A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.266A>G MANE Select	ENSP00000272286.2:p.Gln89Arg
ENST00000643284.1:n.723A>G
ENST00000644611.1:c.278A>G	ENSP00000495423.1:p.Gln93Arg
ENST00000272286.2:c.266A>G	ENSP00000272286.2:p.Gln89Arg
NM_022437.2:c.266A>G	NP_071882.1:p.Gln89Arg
XM_005264483.2:c.266A>G	XP_005264540.1:p.Gln89Arg
XM_011533029.1:c.278A>G	XP_011531331.1:p.Gln93Arg
XM_011533030.1:c.278A>G	XP_011531332.1:p.Gln93Arg
XM_011533031.1:c.50A>G	XP_011531333.1:p.Gln17Arg
XR_939707.1:n.768A>G
NM_001357321.1:c.266A>G	NP_001344250.1:p.Gln89Arg
XM_011533029.2:c.278A>G	XP_011531331.1:p.Gln93Arg
XM_011533030.2:c.278A>G	XP_011531332.1:p.Gln93Arg
XR_001738891.1:n.782A>G
XR_939707.2:n.782A>G
NM_022437.3:c.266A>G MANE Select	NP_071882.1:p.Gln89Arg
NM_001357321.2:c.266A>G	NP_001344250.1:p.Gln89Arg