Canonical Allele Identifier: CA532288691

Gene: ABCG8

Linked Data

• dbSNP Id: rs1170341909
• gnomAD v2: 2-44105301-C-A
• gnomAD v3: 2-43878162-C-A
• gnomAD v4: 2-43878162-C-A
• MyVariant Identifiers: chr2:g.44105301C>A (hg19) ; chr2:g.43878162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878162C>A , CM000664.2:g.43878162C>A	GRCh38
NC_000002.11:g.44105301C>A , CM000664.1:g.44105301C>A	GRCh37
NC_000002.10:g.43958805C>A	NCBI36
NG_008884.1:g.44199C>A
NG_008884.2:g.51221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*249C>A MANE Select	ENSP00000272286.2:n.*249C>A
ENST00000272286.2:c.*249C>A	ENSP00000272286.2:n.*249C>A
NM_022437.2:c.*249C>A	NP_071882.1:n.*249C>A
XM_005264483.2:c.*249C>A	XP_005264540.1:n.*249C>A
XM_011533029.1:c.*249C>A	XP_011531331.1:n.*249C>A
XM_011533030.1:c.*249C>A	XP_011531332.1:n.*249C>A
XM_011533031.1:c.*249C>A	XP_011531333.1:n.*249C>A
XR_939707.1:n.2773C>A
NM_001357321.1:c.*249C>A	NP_001344250.1:n.*249C>A
XM_011533029.2:c.*249C>A	XP_011531331.1:n.*249C>A
XM_011533030.2:c.*249C>A	XP_011531332.1:n.*249C>A
XR_001738891.1:n.2787C>A
XR_939707.2:n.2787C>A
NM_022437.3:c.*249C>A MANE Select	NP_071882.1:n.*249C>A
NM_001357321.2:c.*249C>A	NP_001344250.1:n.*249C>A