Canonical Allele Identifier: CA46475224

Gene: ABCG8

Linked Data

• dbSNP Id: rs946851576
• gnomAD v2: 2-44105300-A-G
• gnomAD v3: 2-43878161-A-G
• gnomAD v4: 2-43878161-A-G
• MyVariant Identifiers: chr2:g.44105300A>G (hg19) ; chr2:g.43878161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878161A>G , CM000664.2:g.43878161A>G	GRCh38
NC_000002.11:g.44105300A>G , CM000664.1:g.44105300A>G	GRCh37
NC_000002.10:g.43958804A>G	NCBI36
NG_008884.1:g.44198A>G
NG_008884.2:g.51220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*248A>G MANE Select	ENSP00000272286.2:n.*248A>G
ENST00000272286.2:c.*248A>G	ENSP00000272286.2:n.*248A>G
NM_022437.2:c.*248A>G	NP_071882.1:n.*248A>G
XM_005264483.2:c.*248A>G	XP_005264540.1:n.*248A>G
XM_011533029.1:c.*248A>G	XP_011531331.1:n.*248A>G
XM_011533030.1:c.*248A>G	XP_011531332.1:n.*248A>G
XM_011533031.1:c.*248A>G	XP_011531333.1:n.*248A>G
XR_939707.1:n.2772A>G
NM_001357321.1:c.*248A>G	NP_001344250.1:n.*248A>G
XM_011533029.2:c.*248A>G	XP_011531331.1:n.*248A>G
XM_011533030.2:c.*248A>G	XP_011531332.1:n.*248A>G
XR_001738891.1:n.2786A>G
XR_939707.2:n.2786A>G
NM_022437.3:c.*248A>G MANE Select	NP_071882.1:n.*248A>G
NM_001357321.2:c.*248A>G	NP_001344250.1:n.*248A>G