Canonical Allele Identifier: CA10602680

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 268135
• ClinVar RCV Id: RCV000258864
• dbSNP Id: rs886041072
• MyVariant Identifiers: chr4:g.77134586del (hg19) ; chr4:g.76213433del (hg38)
• PubMed: PMID:22032306 ; PMID:26677510

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76213433del , CM000666.2:g.76213433del	GRCh38
NC_000004.11:g.77134586del , CM000666.1:g.77134586del	GRCh37
NC_000004.10:g.77353610del	NCBI36
NG_012054.1:g.5450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264896.8:c.111del MANE Select	ENSP00000264896.2:p.Ile37MetfsTer7
ENST00000502908.2:n.364del
ENST00000509994.2:c.111del	ENSP00000420988.1:p.Ile37MetfsTer7
ENST00000638295.1:c.-357-17569del	ENSP00000492288.1:n.-357-17569del
ENST00000638372.1:n.363del
ENST00000638567.1:n.394del
ENST00000638603.1:c.111del	ENSP00000491728.1:p.Ile37MetfsTer7
ENST00000638663.1:c.111del	ENSP00000491407.1:p.Ile37MetfsTer7
ENST00000638680.1:n.444del
ENST00000639145.1:c.111del	ENSP00000492831.1:p.Ile37MetfsTer7
ENST00000639300.1:c.111del	ENSP00000492840.1:p.Ile37MetfsTer7
ENST00000639715.1:c.76del
ENST00000639738.1:c.111del	ENSP00000491792.1:p.Ile37MetfsTer7
ENST00000640341.1:c.111del	ENSP00000492714.1:p.Ile37MetfsTer7
ENST00000640634.1:c.88del
ENST00000640640.1:c.111del	ENSP00000492246.1:p.Ile37MetfsTer7
ENST00000640916.1:n.39del
ENST00000640957.1:c.111del	ENSP00000492004.1:p.Ile37MetfsTer7
ENST00000264896.6:c.111del	ENSP00000264896.2:p.Ile37MetfsTer7
ENST00000452464.6:c.111del	ENSP00000399154.2:p.Ile37MetfsTer7
ENST00000509994.1:c.111del	ENSP00000420988.1:p.Ile37MetfsTer7
NM_001204255.1:c.111del	NP_001191184.1:p.Ile37MetfsTer7
NM_005506.3:c.111del	NP_005497.1:p.Ile37MetfsTer7
NM_005506.4:c.111del MANE Select	NP_005497.1:p.Ile37MetfsTer7
NM_001204255.2:c.111del	NP_001191184.1:p.Ile37MetfsTer7