Canonical Allele Identifier: CA532288677

Gene: ABCG8

Linked Data

• dbSNP Id: rs1217715069
• gnomAD v2: 2-44105141-G-GT
• gnomAD v3: 2-43878002-G-GT
• gnomAD v4: 2-43878002-G-GT
• MyVariant Identifiers: chr2:g.44105141_44105142insT (hg19) ; chr2:g.43878002_43878003insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878002_43878003insT , CM000664.2:g.43878002_43878003insT	GRCh38
NC_000002.11:g.44105141_44105142insT , CM000664.1:g.44105141_44105142insT	GRCh37
NC_000002.10:g.43958645_43958646insT	NCBI36
NG_008884.1:g.44039_44040insT
NG_008884.2:g.51061_51062insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*89_*90insT MANE Select	ENSP00000272286.2:n.*89_*90insT
ENST00000272286.2:c.*89_*90insT	ENSP00000272286.2:n.*89_*90insT
NM_022437.2:c.*89_*90insT	NP_071882.1:n.*89_*90insT
XM_005264483.2:c.*89_*90insT	XP_005264540.1:n.*89_*90insT
XM_011533029.1:c.*89_*90insT	XP_011531331.1:n.*89_*90insT
XM_011533030.1:c.*89_*90insT	XP_011531332.1:n.*89_*90insT
XM_011533031.1:c.*89_*90insT	XP_011531333.1:n.*89_*90insT
XR_939707.1:n.2613_2614insT
NM_001357321.1:c.*89_*90insT	NP_001344250.1:n.*89_*90insT
XM_011533029.2:c.*89_*90insT	XP_011531331.1:n.*89_*90insT
XM_011533030.2:c.*89_*90insT	XP_011531332.1:n.*89_*90insT
XR_001738891.1:n.2627_2628insT
XR_939707.2:n.2627_2628insT
NM_022437.3:c.*89_*90insT MANE Select	NP_071882.1:n.*89_*90insT
NM_001357321.2:c.*89_*90insT	NP_001344250.1:n.*89_*90insT