Canonical Allele Identifier: CA357326775

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100732T>G (hg19) ; chr4:g.76179579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179579T>G , CM000666.2:g.76179579T>G	GRCh38
NC_000004.11:g.77100732T>G , CM000666.1:g.77100732T>G	GRCh37
NC_000004.10:g.77319756T>G	NCBI36
NG_012054.1:g.39304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.526A>C
ENST00000264896.8:c.550A>C MANE Select	ENSP00000264896.2:p.Ile184Leu
ENST00000502908.2:n.2051A>C
ENST00000638295.1:c.76A>C	ENSP00000492288.1:p.Ile26Leu
ENST00000638372.1:n.802A>C
ENST00000638603.1:c.550A>C	ENSP00000491728.1:p.Ile184Leu
ENST00000638663.1:c.550A>C	ENSP00000491407.1:p.Ile184Leu
ENST00000638680.1:n.2131A>C
ENST00000639145.1:c.541A>C	ENSP00000492831.1:p.Ile181Leu
ENST00000639300.1:c.550A>C	ENSP00000492840.1:p.Ile184Leu
ENST00000639324.1:n.649A>C
ENST00000639715.1:c.505A>C
ENST00000639738.1:c.276-13278A>C	ENSP00000491792.1:n.276-13278A>C
ENST00000640076.1:n.131A>C
ENST00000640341.1:c.*190A>C	ENSP00000492714.1:n.*190A>C
ENST00000640634.1:c.671A>C
ENST00000640640.1:c.550A>C	ENSP00000492246.1:p.Ile184Leu
ENST00000640916.1:n.478A>C
ENST00000640957.1:c.550A>C	ENSP00000492004.1:p.Ile184Leu
ENST00000264896.6:c.550A>C	ENSP00000264896.2:p.Ile184Leu
ENST00000452464.6:c.276-3669A>C	ENSP00000399154.2:n.276-3669A>C
NM_001204255.1:c.276-3669A>C	NP_001191184.1:n.276-3669A>C
NM_005506.3:c.550A>C	NP_005497.1:p.Ile184Leu
NM_005506.4:c.550A>C MANE Select	NP_005497.1:p.Ile184Leu
NM_001204255.2:c.276-3669A>C	NP_001191184.1:n.276-3669A>C