Canonical Allele Identifier: CA357326745

Gene: SCARB2

Linked Data

• dbSNP Id: rs1732335510
• gnomAD v4: 4-76179565-G-C
• MyVariant Identifiers: chr4:g.77100718G>C (hg19) ; chr4:g.76179565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179565G>C , CM000666.2:g.76179565G>C	GRCh38
NC_000004.11:g.77100718G>C , CM000666.1:g.77100718G>C	GRCh37
NC_000004.10:g.77319742G>C	NCBI36
NG_012054.1:g.39318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.540C>G
ENST00000264896.8:c.564C>G MANE Select	ENSP00000264896.2:p.Ile188Met
ENST00000502908.2:n.2065C>G
ENST00000638295.1:c.90C>G	ENSP00000492288.1:p.Ile30Met
ENST00000638372.1:n.816C>G
ENST00000638603.1:c.564C>G	ENSP00000491728.1:p.Ile188Met
ENST00000638663.1:c.564C>G	ENSP00000491407.1:p.Ile188Met
ENST00000638680.1:n.2145C>G
ENST00000639145.1:c.555C>G	ENSP00000492831.1:p.Ile185Met
ENST00000639300.1:c.564C>G	ENSP00000492840.1:p.Ile188Met
ENST00000639324.1:n.663C>G
ENST00000639715.1:c.519C>G
ENST00000639738.1:c.276-13264C>G	ENSP00000491792.1:n.276-13264C>G
ENST00000640076.1:n.145C>G
ENST00000640341.1:c.*204C>G	ENSP00000492714.1:n.*204C>G
ENST00000640634.1:c.685C>G
ENST00000640640.1:c.564C>G	ENSP00000492246.1:p.Ile188Met
ENST00000640916.1:n.492C>G
ENST00000640957.1:c.564C>G	ENSP00000492004.1:p.Ile188Met
ENST00000264896.6:c.564C>G	ENSP00000264896.2:p.Ile188Met
ENST00000452464.6:c.276-3655C>G	ENSP00000399154.2:n.276-3655C>G
NM_001204255.1:c.276-3655C>G	NP_001191184.1:n.276-3655C>G
NM_005506.3:c.564C>G	NP_005497.1:p.Ile188Met
NM_005506.4:c.564C>G MANE Select	NP_005497.1:p.Ile188Met
NM_001204255.2:c.276-3655C>G	NP_001191184.1:n.276-3655C>G