Canonical Allele Identifier: CA357326697

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100697G>C (hg19) ; chr4:g.76179544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179544G>C , CM000666.2:g.76179544G>C	GRCh38
NC_000004.11:g.77100697G>C , CM000666.1:g.77100697G>C	GRCh37
NC_000004.10:g.77319721G>C	NCBI36
NG_012054.1:g.39339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.561C>G
ENST00000264896.8:c.585C>G MANE Select	ENSP00000264896.2:p.Ile195Met
ENST00000502908.2:n.2086C>G
ENST00000638295.1:c.111C>G	ENSP00000492288.1:p.Ile37Met
ENST00000638372.1:n.837C>G
ENST00000638603.1:c.585C>G	ENSP00000491728.1:p.Ile195Met
ENST00000638663.1:c.585C>G	ENSP00000491407.1:p.Ile195Met
ENST00000638680.1:n.2166C>G
ENST00000639145.1:c.576C>G	ENSP00000492831.1:p.Ile192Met
ENST00000639300.1:c.585C>G	ENSP00000492840.1:p.Ile195Met
ENST00000639324.1:n.684C>G
ENST00000639715.1:c.540C>G
ENST00000639738.1:c.276-13243C>G	ENSP00000491792.1:n.276-13243C>G
ENST00000640076.1:n.166C>G
ENST00000640341.1:c.*225C>G	ENSP00000492714.1:n.*225C>G
ENST00000640634.1:c.706C>G
ENST00000640640.1:c.585C>G	ENSP00000492246.1:p.Ile195Met
ENST00000640916.1:n.513C>G
ENST00000640957.1:c.585C>G	ENSP00000492004.1:p.Ile195Met
ENST00000264896.6:c.585C>G	ENSP00000264896.2:p.Ile195Met
ENST00000452464.6:c.276-3634C>G	ENSP00000399154.2:n.276-3634C>G
NM_001204255.1:c.276-3634C>G	NP_001191184.1:n.276-3634C>G
NM_005506.3:c.585C>G	NP_005497.1:p.Ile195Met
NM_005506.4:c.585C>G MANE Select	NP_005497.1:p.Ile195Met
NM_001204255.2:c.276-3634C>G	NP_001191184.1:n.276-3634C>G