Canonical Allele Identifier: CA798537922

Gene: SCARB2

Linked Data

• dbSNP Id: rs1235772660
• gnomAD v3: 4-76188999-C-CA
• gnomAD v4: 4-76188999-C-CA
• MyVariant Identifiers: chr4:g.77110152_77110153insA (hg19) ; chr4:g.76188999_76189000insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76189002dup , CM000666.2:g.76189002dup	GRCh38
NC_000004.11:g.77110155dup , CM000666.1:g.77110155dup	GRCh37
NC_000004.10:g.77329179dup	NCBI36
NG_012054.1:g.29883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.251+6707dup
ENST00000264896.8:c.275+6707dup MANE Select	ENSP00000264896.2:n.275+6707dup
ENST00000502908.2:n.528+6707dup
ENST00000509994.2:c.276-4220dup	ENSP00000420988.1:n.276-4220dup
ENST00000638295.1:c.-200+6707dup	ENSP00000492288.1:n.-200+6707dup
ENST00000638372.1:n.527+6707dup
ENST00000638603.1:c.275+6707dup	ENSP00000491728.1:n.275+6707dup
ENST00000638663.1:c.275+6707dup	ENSP00000491407.1:n.275+6707dup
ENST00000638680.1:n.608+6707dup
ENST00000639145.1:c.275+6707dup	ENSP00000492831.1:n.275+6707dup
ENST00000639300.1:c.275+6707dup	ENSP00000492840.1:n.275+6707dup
ENST00000639324.1:n.374+6707dup
ENST00000639715.1:c.240+6707dup
ENST00000639738.1:c.275+6707dup	ENSP00000491792.1:n.275+6707dup
ENST00000640341.1:c.275+6707dup	ENSP00000492714.1:n.275+6707dup
ENST00000640634.1:c.252+6707dup
ENST00000640640.1:c.275+6707dup	ENSP00000492246.1:n.275+6707dup
ENST00000640916.1:n.203+6707dup
ENST00000640957.1:c.275+6707dup	ENSP00000492004.1:n.275+6707dup
ENST00000264896.6:c.275+6707dup	ENSP00000264896.2:n.275+6707dup
ENST00000452464.6:c.275+6707dup	ENSP00000399154.2:n.275+6707dup
ENST00000502908.1:n.139+6707dup
ENST00000509994.1:c.276-4220dup	ENSP00000420988.1:n.276-4220dup
NM_001204255.1:c.275+6707dup	NP_001191184.1:n.275+6707dup
NM_005506.3:c.275+6707dup	NP_005497.1:n.275+6707dup
NM_005506.4:c.275+6707dup MANE Select	NP_005497.1:n.275+6707dup
NM_001204255.2:c.275+6707dup	NP_001191184.1:n.275+6707dup