Canonical Allele Identifier: CA46432451

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 499942
• ClinVar RCV Id: RCV000595922
• dbSNP Id: rs934115584
• gnomAD v2: 2-44071644-A-G
• gnomAD v3: 2-43844505-A-G
• gnomAD v4: 2-43844505-A-G
• MyVariant Identifiers: chr2:g.44071644A>G (hg19) ; chr2:g.43844505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844505A>G , CM000664.2:g.43844505A>G	GRCh38
NC_000002.11:g.44071644A>G , CM000664.1:g.44071644A>G	GRCh37
NC_000002.10:g.43925148A>G	NCBI36
NG_008884.1:g.10542A>G
NG_008884.2:g.17564A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.64-2A>G MANE Select	ENSP00000272286.2:n.64-2A>G
ENST00000643284.1:n.521-2A>G
ENST00000644611.1:c.76-2A>G	ENSP00000495423.1:n.76-2A>G
ENST00000272286.2:c.64-2A>G	ENSP00000272286.2:n.64-2A>G
NM_022437.2:c.64-2A>G	NP_071882.1:n.64-2A>G
XM_005264483.2:c.64-2A>G	XP_005264540.1:n.64-2A>G
XM_011533029.1:c.76-2A>G	XP_011531331.1:n.76-2A>G
XM_011533030.1:c.76-2A>G	XP_011531332.1:n.76-2A>G
XM_011533031.1:c.-153-2A>G	XP_011531333.1:n.-153-2A>G
XR_939707.1:n.566-2A>G
XR_940032.1:n.16T>C
NM_001357321.1:c.64-2A>G	NP_001344250.1:n.64-2A>G
XM_011533029.2:c.76-2A>G	XP_011531331.1:n.76-2A>G
XM_011533030.2:c.76-2A>G	XP_011531332.1:n.76-2A>G
XR_001738891.1:n.580-2A>G
XR_939707.2:n.580-2A>G
XR_940032.3:n.16T>C
NM_022437.3:c.64-2A>G MANE Select	NP_071882.1:n.64-2A>G
NM_001357321.2:c.64-2A>G	NP_001344250.1:n.64-2A>G