Canonical Allele Identifier: CA357326677

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100687A>G (hg19) ; chr4:g.76179534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179534A>G , CM000666.2:g.76179534A>G	GRCh38
NC_000004.11:g.77100687A>G , CM000666.1:g.77100687A>G	GRCh37
NC_000004.10:g.77319711A>G	NCBI36
NG_012054.1:g.39349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.571T>C
ENST00000264896.8:c.595T>C MANE Select	ENSP00000264896.2:p.Phe199Leu
ENST00000502908.2:n.2096T>C
ENST00000638295.1:c.121T>C	ENSP00000492288.1:p.Phe41Leu
ENST00000638372.1:n.847T>C
ENST00000638603.1:c.595T>C	ENSP00000491728.1:p.Phe199Leu
ENST00000638663.1:c.595T>C	ENSP00000491407.1:p.Phe199Leu
ENST00000638680.1:n.2176T>C
ENST00000639145.1:c.586T>C	ENSP00000492831.1:p.Phe196Leu
ENST00000639300.1:c.595T>C	ENSP00000492840.1:p.Phe199Leu
ENST00000639324.1:n.694T>C
ENST00000639715.1:c.550T>C
ENST00000639738.1:c.276-13233T>C	ENSP00000491792.1:n.276-13233T>C
ENST00000640076.1:n.176T>C
ENST00000640341.1:c.*235T>C	ENSP00000492714.1:n.*235T>C
ENST00000640634.1:c.716T>C
ENST00000640640.1:c.595T>C	ENSP00000492246.1:p.Phe199Leu
ENST00000640916.1:n.523T>C
ENST00000640957.1:c.595T>C	ENSP00000492004.1:p.Phe199Leu
ENST00000264896.6:c.595T>C	ENSP00000264896.2:p.Phe199Leu
ENST00000452464.6:c.276-3624T>C	ENSP00000399154.2:n.276-3624T>C
NM_001204255.1:c.276-3624T>C	NP_001191184.1:n.276-3624T>C
NM_005506.3:c.595T>C	NP_005497.1:p.Phe199Leu
NM_005506.4:c.595T>C MANE Select	NP_005497.1:p.Phe199Leu
NM_001204255.2:c.276-3624T>C	NP_001191184.1:n.276-3624T>C