Canonical Allele Identifier: CA439953765

Gene: SCARB2

Linked Data

• dbSNP Id: rs1436291332
• gnomAD v2: 4-77100679-T-C
• gnomAD v4: 4-76179526-T-C
• MyVariant Identifiers: chr4:g.77100679T>C (hg19) ; chr4:g.76179526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179526T>C , CM000666.2:g.76179526T>C	GRCh38
NC_000004.11:g.77100679T>C , CM000666.1:g.77100679T>C	GRCh37
NC_000004.10:g.77319703T>C	NCBI36
NG_012054.1:g.39357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.579A>G
ENST00000264896.8:c.603A>G MANE Select	ENSP00000264896.2:p.Leu201=
ENST00000502908.2:n.2104A>G
ENST00000638295.1:c.129A>G	ENSP00000492288.1:p.Leu43=
ENST00000638372.1:n.855A>G
ENST00000638603.1:c.603A>G	ENSP00000491728.1:p.Leu201=
ENST00000638663.1:c.603A>G	ENSP00000491407.1:p.Leu201=
ENST00000638680.1:n.2184A>G
ENST00000639145.1:c.594A>G	ENSP00000492831.1:p.Leu198=
ENST00000639300.1:c.603A>G	ENSP00000492840.1:p.Leu201=
ENST00000639324.1:n.702A>G
ENST00000639715.1:c.558A>G
ENST00000639738.1:c.276-13225A>G	ENSP00000491792.1:n.276-13225A>G
ENST00000640076.1:n.184A>G
ENST00000640341.1:c.*243A>G	ENSP00000492714.1:n.*243A>G
ENST00000640634.1:c.724A>G
ENST00000640640.1:c.603A>G	ENSP00000492246.1:p.Leu201=
ENST00000640916.1:n.531A>G
ENST00000640957.1:c.603A>G	ENSP00000492004.1:p.Leu201=
ENST00000264896.6:c.603A>G	ENSP00000264896.2:p.Leu201=
ENST00000452464.6:c.276-3616A>G	ENSP00000399154.2:n.276-3616A>G
NM_001204255.1:c.276-3616A>G	NP_001191184.1:n.276-3616A>G
NM_005506.3:c.603A>G	NP_005497.1:p.Leu201=
NM_005506.4:c.603A>G MANE Select	NP_005497.1:p.Leu201=
NM_001204255.2:c.276-3616A>G	NP_001191184.1:n.276-3616A>G