Canonical Allele Identifier: CA532282386

Gene: ABCG8

Linked Data

• dbSNP Id: rs1183231810
• gnomAD v2: 2-44073826-T-G
• gnomAD v3: 2-43846687-T-G
• gnomAD v4: 2-43846687-T-G
• MyVariant Identifiers: chr2:g.44073826T>G (hg19) ; chr2:g.43846687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846687T>G , CM000664.2:g.43846687T>G	GRCh38
NC_000002.11:g.44073826T>G , CM000664.1:g.44073826T>G	GRCh37
NC_000002.10:g.43927330T>G	NCBI36
NG_008884.1:g.12724T>G
NG_008884.2:g.19746T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+376T>G MANE Select	ENSP00000272286.2:n.322+376T>G
ENST00000643284.1:n.1155T>G
ENST00000644611.1:c.334+376T>G	ENSP00000495423.1:n.334+376T>G
ENST00000272286.2:c.322+376T>G	ENSP00000272286.2:n.322+376T>G
NM_022437.2:c.322+376T>G	NP_071882.1:n.322+376T>G
XM_005264483.2:c.322+376T>G	XP_005264540.1:n.322+376T>G
XM_011533029.1:c.334+376T>G	XP_011531331.1:n.334+376T>G
XM_011533030.1:c.334+376T>G	XP_011531332.1:n.334+376T>G
XM_011533031.1:c.106+376T>G	XP_011531333.1:n.106+376T>G
XR_939707.1:n.824+376T>G
NM_001357321.1:c.322+376T>G	NP_001344250.1:n.322+376T>G
XM_011533029.2:c.334+376T>G	XP_011531331.1:n.334+376T>G
XM_011533030.2:c.334+376T>G	XP_011531332.1:n.334+376T>G
XR_001738891.1:n.838+376T>G
XR_939707.2:n.838+376T>G
NM_022437.3:c.322+376T>G MANE Select	NP_071882.1:n.322+376T>G
NM_001357321.2:c.322+376T>G	NP_001344250.1:n.322+376T>G