Canonical Allele Identifier: CA532280611

Gene: ABCG8

Linked Data

• dbSNP Id: rs1387531136
• gnomAD v2: 2-44066176-A-G
• gnomAD v4: 2-43839037-A-G
• MyVariant Identifiers: chr2:g.44066176A>G (hg19) ; chr2:g.43839037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839037A>G , CM000664.2:g.43839037A>G	GRCh38
NC_000002.11:g.44066176A>G , CM000664.1:g.44066176A>G	GRCh37
NC_000002.10:g.43919680A>G	NCBI36
NG_008883.1:g.4783T>C
NG_008884.1:g.5074A>G
NG_008884.2:g.12096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-17A>G MANE Select	ENSP00000272286.2:n.-17A>G
ENST00000643284.1:n.521-5470A>G
ENST00000644611.1:c.76-5470A>G	ENSP00000495423.1:n.76-5470A>G
ENST00000272286.2:c.-17A>G	ENSP00000272286.2:n.-17A>G
NM_022437.2:c.-17A>G	NP_071882.1:n.-17A>G
XM_005264483.2:c.-17A>G	XP_005264540.1:n.-17A>G
XM_011533029.1:c.76-5470A>G	XP_011531331.1:n.76-5470A>G
XM_011533030.1:c.76-5470A>G	XP_011531332.1:n.76-5470A>G
XM_011533031.1:c.-153-5470A>G	XP_011531333.1:n.-153-5470A>G
XR_939707.1:n.566-5470A>G
NM_001357321.1:c.-17A>G	NP_001344250.1:n.-17A>G
XM_011533029.2:c.76-5470A>G	XP_011531331.1:n.76-5470A>G
XM_011533030.2:c.76-5470A>G	XP_011531332.1:n.76-5470A>G
XR_001738891.1:n.580-5470A>G
XR_939707.2:n.580-5470A>G
NM_022437.3:c.-17A>G MANE Select	NP_071882.1:n.-17A>G
NM_001357321.2:c.-17A>G	NP_001344250.1:n.-17A>G