Canonical Allele Identifier: CA317070

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 206712
• ClinVar RCV Id: RCV000188799 ; RCV000703654 ; RCV002485279
• dbSNP Id: rs199837910
• ExAC: 4:77097022 T / C
• gnomAD v2: 4-77097022-T-C
• gnomAD v3: 4-76175869-T-C
• gnomAD v4: 4-76175869-T-C
• MyVariant Identifiers: chr4:g.77097022T>C (hg19) ; chr4:g.76175869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76175869T>C , CM000666.2:g.76175869T>C	GRCh38
NC_000004.11:g.77097022T>C , CM000666.1:g.77097022T>C	GRCh37
NC_000004.10:g.77316046T>C	NCBI36
NG_012054.1:g.43014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.722A>G
ENST00000264896.8:c.746A>G MANE Select	ENSP00000264896.2:p.Asn249Ser
ENST00000638175.1:n.383A>G
ENST00000638295.1:c.272A>G	ENSP00000492288.1:p.Asn91Ser
ENST00000638372.1:n.998A>G
ENST00000638603.1:c.704+568A>G	ENSP00000491728.1:n.704+568A>G
ENST00000638663.1:c.746A>G	ENSP00000491407.1:p.Asn249Ser
ENST00000638680.1:n.2327A>G
ENST00000638843.1:n.739A>G
ENST00000639145.1:c.737A>G	ENSP00000492831.1:p.Asn246Ser
ENST00000639300.1:c.*33A>G	ENSP00000492840.1:n.*33A>G
ENST00000639715.1:c.701A>G
ENST00000639738.1:c.276-9568A>G	ENSP00000491792.1:n.276-9568A>G
ENST00000640076.1:n.327A>G
ENST00000640341.1:c.*386A>G	ENSP00000492714.1:n.*386A>G
ENST00000640634.1:c.867A>G
ENST00000640640.1:c.746A>G	ENSP00000492246.1:p.Asn249Ser
ENST00000640957.1:c.746A>G	ENSP00000492004.1:p.Asn249Ser
ENST00000264896.6:c.746A>G	ENSP00000264896.2:p.Asn249Ser
ENST00000452464.6:c.317A>G	ENSP00000399154.2:p.Asn106Ser
NM_001204255.1:c.317A>G	NP_001191184.1:p.Asn106Ser
NM_005506.3:c.746A>G	NP_005497.1:p.Asn249Ser
NM_005506.4:c.746A>G MANE Select	NP_005497.1:p.Asn249Ser
NM_001204255.2:c.317A>G	NP_001191184.1:p.Asn106Ser