Canonical Allele Identifier: CA439953883

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 1633798
• ClinVar RCV Id: RCV002142723
• dbSNP Id: rs2109947255
• MyVariant Identifiers: chr4:g.77100756A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179603A>G , CM000666.2:g.76179603A>G	GRCh38
NC_000004.11:g.77100756A>G , CM000666.1:g.77100756A>G	GRCh37
NC_000004.10:g.77319780A>G	NCBI36
NG_012054.1:g.39280T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.502T>C
ENST00000264896.8:c.526T>C MANE Select	ENSP00000264896.2:p.Leu176=
ENST00000502908.2:n.2027T>C
ENST00000638295.1:c.52T>C	ENSP00000492288.1:p.Leu18=
ENST00000638372.1:n.778T>C
ENST00000638603.1:c.526T>C	ENSP00000491728.1:p.Leu176=
ENST00000638663.1:c.526T>C	ENSP00000491407.1:p.Leu176=
ENST00000638680.1:n.2107T>C
ENST00000639145.1:c.517T>C	ENSP00000492831.1:p.Leu173=
ENST00000639300.1:c.526T>C	ENSP00000492840.1:p.Leu176=
ENST00000639324.1:n.625T>C
ENST00000639715.1:c.481T>C
ENST00000639738.1:c.276-13302T>C	ENSP00000491792.1:n.276-13302T>C
ENST00000640076.1:n.107T>C
ENST00000640341.1:c.*166T>C	ENSP00000492714.1:n.*166T>C
ENST00000640634.1:c.647T>C
ENST00000640640.1:c.526T>C	ENSP00000492246.1:p.Leu176=
ENST00000640916.1:n.454T>C
ENST00000640957.1:c.526T>C	ENSP00000492004.1:p.Leu176=
ENST00000264896.6:c.526T>C	ENSP00000264896.2:p.Leu176=
ENST00000452464.6:c.276-3693T>C	ENSP00000399154.2:n.276-3693T>C
NM_001204255.1:c.276-3693T>C	NP_001191184.1:n.276-3693T>C
NM_005506.3:c.526T>C	NP_005497.1:p.Leu176=
NM_005506.4:c.526T>C MANE Select	NP_005497.1:p.Leu176=
NM_001204255.2:c.276-3693T>C	NP_001191184.1:n.276-3693T>C