Canonical Allele Identifier: CA346670826

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104739G>A (hg19) ; chr2:g.43877600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877600G>A , CM000664.2:g.43877600G>A	GRCh38
NC_000002.11:g.44104739G>A , CM000664.1:g.44104739G>A	GRCh37
NC_000002.10:g.43958243G>A	NCBI36
NG_008884.1:g.43637G>A
NG_008884.2:g.50659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1796G>A MANE Select	ENSP00000272286.2:p.Cys599Tyr
ENST00000272286.2:c.1796G>A	ENSP00000272286.2:p.Cys599Tyr
NM_022437.2:c.1796G>A	NP_071882.1:p.Cys599Tyr
XM_005264483.2:c.1793G>A	XP_005264540.1:p.Cys598Tyr
XM_011533029.1:c.1808G>A	XP_011531331.1:p.Cys603Tyr
XM_011533030.1:c.1805G>A	XP_011531332.1:p.Cys602Tyr
XM_011533031.1:c.1580G>A	XP_011531333.1:p.Cys527Tyr
XR_939707.1:n.2298G>A
NM_001357321.1:c.1793G>A	NP_001344250.1:p.Cys598Tyr
XM_011533029.2:c.1808G>A	XP_011531331.1:p.Cys603Tyr
XM_011533030.2:c.1805G>A	XP_011531332.1:p.Cys602Tyr
XR_001738891.1:n.2312G>A
XR_939707.2:n.2312G>A
NM_022437.3:c.1796G>A MANE Select	NP_071882.1:p.Cys599Tyr
NM_001357321.2:c.1793G>A	NP_001344250.1:p.Cys598Tyr