Canonical Allele Identifier: CA2970215

Gene: SCARB2

Linked Data

• dbSNP Id: rs754820784
• ExAC: 4:77095331 G / A
• gnomAD v2: 4-77095331-G-A
• MyVariant Identifiers: chr4:g.77095331G>A (hg19) ; chr4:g.76174178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174178G>A , CM000666.2:g.76174178G>A	GRCh38
NC_000004.11:g.77095331G>A , CM000666.1:g.77095331G>A	GRCh37
NC_000004.10:g.77314355G>A	NCBI36
NG_012054.1:g.44705C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.936C>T
ENST00000264896.8:c.960C>T MANE Select	ENSP00000264896.2:p.Gly320=
ENST00000638295.1:c.486C>T	ENSP00000492288.1:p.Gly162=
ENST00000638372.1:n.1212C>T
ENST00000638409.1:n.1275C>T
ENST00000638603.1:c.840C>T	ENSP00000491728.1:p.Gly280=
ENST00000638663.1:c.960C>T	ENSP00000491407.1:p.Gly320=
ENST00000638680.1:n.2541C>T
ENST00000638843.1:n.953C>T
ENST00000639145.1:c.951C>T	ENSP00000492831.1:p.Gly317=
ENST00000639300.1:c.*247C>T	ENSP00000492840.1:n.*247C>T
ENST00000639715.1:c.915C>T
ENST00000639738.1:c.276-7877C>T	ENSP00000491792.1:n.276-7877C>T
ENST00000640076.1:n.541C>T
ENST00000640341.1:c.*600C>T	ENSP00000492714.1:n.*600C>T
ENST00000640634.1:c.1081C>T
ENST00000640640.1:c.960C>T	ENSP00000492246.1:p.Gly320=
ENST00000640957.1:c.960C>T	ENSP00000492004.1:p.Gly320=
ENST00000264896.6:c.960C>T	ENSP00000264896.2:p.Gly320=
ENST00000452464.6:c.531C>T	ENSP00000399154.2:p.Gly177=
NM_001204255.1:c.531C>T	NP_001191184.1:p.Gly177=
NM_005506.3:c.960C>T	NP_005497.1:p.Gly320=
NM_005506.4:c.960C>T MANE Select	NP_005497.1:p.Gly320=
NM_001204255.2:c.531C>T	NP_001191184.1:p.Gly177=