Canonical Allele Identifier: CA1636955

Gene: ABCG8

Linked Data

• dbSNP Id: rs771977246
• ExAC: 2:44073404 C / G
• gnomAD v2: 2-44073404-C-G
• gnomAD v4: 2-43846265-C-G
• MyVariant Identifiers: chr2:g.44073404C>G (hg19) ; chr2:g.43846265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846265C>G , CM000664.2:g.43846265C>G	GRCh38
NC_000002.11:g.44073404C>G , CM000664.1:g.44073404C>G	GRCh37
NC_000002.10:g.43926908C>G	NCBI36
NG_008884.1:g.12302C>G
NG_008884.2:g.19324C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.276C>G MANE Select	ENSP00000272286.2:p.Ser92Arg
ENST00000643284.1:n.733C>G
ENST00000644611.1:c.288C>G	ENSP00000495423.1:p.Ser96Arg
ENST00000272286.2:c.276C>G	ENSP00000272286.2:p.Ser92Arg
NM_022437.2:c.276C>G	NP_071882.1:p.Ser92Arg
XM_005264483.2:c.276C>G	XP_005264540.1:p.Ser92Arg
XM_011533029.1:c.288C>G	XP_011531331.1:p.Ser96Arg
XM_011533030.1:c.288C>G	XP_011531332.1:p.Ser96Arg
XM_011533031.1:c.60C>G	XP_011531333.1:p.Ser20Arg
XR_939707.1:n.778C>G
NM_001357321.1:c.276C>G	NP_001344250.1:p.Ser92Arg
XM_011533029.2:c.288C>G	XP_011531331.1:p.Ser96Arg
XM_011533030.2:c.288C>G	XP_011531332.1:p.Ser96Arg
XR_001738891.1:n.792C>G
XR_939707.2:n.792C>G
NM_022437.3:c.276C>G MANE Select	NP_071882.1:p.Ser92Arg
NM_001357321.2:c.276C>G	NP_001344250.1:p.Ser92Arg