Canonical Allele Identifier: CA317068

Gene: SCARB2

Linked Data

• dbSNP Id: rs1553948393
• MyVariant Identifiers: chr4:g.77100725G>A (hg19) ; chr4:g.76179572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179572G>A , CM000666.2:g.76179572G>A	GRCh38
NC_000004.11:g.77100725G>A , CM000666.1:g.77100725G>A	GRCh37
NC_000004.10:g.77319749G>A	NCBI36
NG_012054.1:g.39311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.533C>T
ENST00000264896.8:c.557C>T MANE Select	ENSP00000264896.2:p.Ser186Phe
ENST00000502908.2:n.2058C>T
ENST00000638295.1:c.83C>T	ENSP00000492288.1:p.Ser28Phe
ENST00000638372.1:n.809C>T
ENST00000638603.1:c.557C>T	ENSP00000491728.1:p.Ser186Phe
ENST00000638663.1:c.557C>T	ENSP00000491407.1:p.Ser186Phe
ENST00000638680.1:n.2138C>T
ENST00000639145.1:c.548C>T	ENSP00000492831.1:p.Ser183Phe
ENST00000639300.1:c.557C>T	ENSP00000492840.1:p.Ser186Phe
ENST00000639324.1:n.656C>T
ENST00000639715.1:c.512C>T
ENST00000639738.1:c.276-13271C>T	ENSP00000491792.1:n.276-13271C>T
ENST00000640076.1:n.138C>T
ENST00000640341.1:c.*197C>T	ENSP00000492714.1:n.*197C>T
ENST00000640634.1:c.678C>T
ENST00000640640.1:c.557C>T	ENSP00000492246.1:p.Ser186Phe
ENST00000640916.1:n.485C>T
ENST00000640957.1:c.557C>T	ENSP00000492004.1:p.Ser186Phe
ENST00000264896.6:c.557C>T	ENSP00000264896.2:p.Ser186Phe
ENST00000452464.6:c.276-3662C>T	ENSP00000399154.2:n.276-3662C>T
NM_001204255.1:c.276-3662C>T	NP_001191184.1:n.276-3662C>T
NM_005506.3:c.557C>T	NP_005497.1:p.Ser186Phe
NM_005506.4:c.557C>T MANE Select	NP_005497.1:p.Ser186Phe
NM_001204255.2:c.276-3662C>T	NP_001191184.1:n.276-3662C>T