Canonical Allele Identifier: CA532280704

Gene: ABCG8

Linked Data

• dbSNP Id: rs1448889342
• gnomAD v2: 2-44066502-G-A
• gnomAD v3: 2-43839363-G-A
• gnomAD v4: 2-43839363-G-A
• MyVariant Identifiers: chr2:g.44066502G>A (hg19) ; chr2:g.43839363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839363G>A , CM000664.2:g.43839363G>A	GRCh38
NC_000002.11:g.44066502G>A , CM000664.1:g.44066502G>A	GRCh37
NC_000002.10:g.43920006G>A	NCBI36
NG_008883.1:g.4457C>T
NG_008884.1:g.5400G>A
NG_008884.2:g.12422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+247G>A MANE Select	ENSP00000272286.2:n.63+247G>A
ENST00000643284.1:n.521-5144G>A
ENST00000644611.1:c.76-5144G>A	ENSP00000495423.1:n.76-5144G>A
ENST00000272286.2:c.63+247G>A	ENSP00000272286.2:n.63+247G>A
NM_022437.2:c.63+247G>A	NP_071882.1:n.63+247G>A
XM_005264483.2:c.63+247G>A	XP_005264540.1:n.63+247G>A
XM_011533029.1:c.76-5144G>A	XP_011531331.1:n.76-5144G>A
XM_011533030.1:c.76-5144G>A	XP_011531332.1:n.76-5144G>A
XM_011533031.1:c.-153-5144G>A	XP_011531333.1:n.-153-5144G>A
XR_939707.1:n.566-5144G>A
NM_001357321.1:c.63+247G>A	NP_001344250.1:n.63+247G>A
XM_011533029.2:c.76-5144G>A	XP_011531331.1:n.76-5144G>A
XM_011533030.2:c.76-5144G>A	XP_011531332.1:n.76-5144G>A
XR_001738891.1:n.580-5144G>A
XR_939707.2:n.580-5144G>A
NM_022437.3:c.63+247G>A MANE Select	NP_071882.1:n.63+247G>A
NM_001357321.2:c.63+247G>A	NP_001344250.1:n.63+247G>A