Canonical Allele Identifier: CA346663238

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 500779
• ClinVar RCV Id: RCV000594922 ; RCV001783098
• dbSNP Id: rs1000291485
• MyVariant Identifiers: chr2:g.44071702C>A (hg19) ; chr2:g.43844563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844563C>A , CM000664.2:g.43844563C>A	GRCh38
NC_000002.11:g.44071702C>A , CM000664.1:g.44071702C>A	GRCh37
NC_000002.10:g.43925206C>A	NCBI36
NG_008884.1:g.10600C>A
NG_008884.2:g.17622C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.120C>A MANE Select	ENSP00000272286.2:p.Tyr40Ter
ENST00000643284.1:n.577C>A
ENST00000644611.1:c.132C>A	ENSP00000495423.1:p.Tyr44Ter
ENST00000272286.2:c.120C>A	ENSP00000272286.2:p.Tyr40Ter
NM_022437.2:c.120C>A	NP_071882.1:p.Tyr40Ter
XM_005264483.2:c.120C>A	XP_005264540.1:p.Tyr40Ter
XM_011533029.1:c.132C>A	XP_011531331.1:p.Tyr44Ter
XM_011533030.1:c.132C>A	XP_011531332.1:p.Tyr44Ter
XM_011533031.1:c.-97C>A	XP_011531333.1:n.-97C>A
XR_939707.1:n.622C>A
NM_001357321.1:c.120C>A	NP_001344250.1:p.Tyr40Ter
XM_011533029.2:c.132C>A	XP_011531331.1:p.Tyr44Ter
XM_011533030.2:c.132C>A	XP_011531332.1:p.Tyr44Ter
XR_001738891.1:n.636C>A
XR_939707.2:n.636C>A
NM_022437.3:c.120C>A MANE Select	NP_071882.1:p.Tyr40Ter
NM_001357321.2:c.120C>A	NP_001344250.1:p.Tyr40Ter