Canonical Allele Identifier: CA46475270

Gene: ABCG8

Linked Data

• dbSNP Id: rs935352255
• gnomAD v4: 2-43878194-A-G
• MyVariant Identifiers: chr2:g.44105333A>G (hg19) ; chr2:g.43878194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878194A>G , CM000664.2:g.43878194A>G	GRCh38
NC_000002.11:g.44105333A>G , CM000664.1:g.44105333A>G	GRCh37
NC_000002.10:g.43958837A>G	NCBI36
NG_008884.1:g.44231A>G
NG_008884.2:g.51253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*281A>G MANE Select	ENSP00000272286.2:n.*281A>G
ENST00000272286.2:c.*281A>G	ENSP00000272286.2:n.*281A>G
NM_022437.2:c.*281A>G	NP_071882.1:n.*281A>G
XM_005264483.2:c.*281A>G	XP_005264540.1:n.*281A>G
XM_011533029.1:c.*281A>G	XP_011531331.1:n.*281A>G
XM_011533030.1:c.*281A>G	XP_011531332.1:n.*281A>G
XM_011533031.1:c.*281A>G	XP_011531333.1:n.*281A>G
XR_939707.1:n.2805A>G
NM_001357321.1:c.*281A>G	NP_001344250.1:n.*281A>G
XM_011533029.2:c.*281A>G	XP_011531331.1:n.*281A>G
XM_011533030.2:c.*281A>G	XP_011531332.1:n.*281A>G
XR_001738891.1:n.2819A>G
XR_939707.2:n.2819A>G
NM_022437.3:c.*281A>G MANE Select	NP_071882.1:n.*281A>G
NM_001357321.2:c.*281A>G	NP_001344250.1:n.*281A>G