Canonical Allele Identifier: CA99844430

Gene: SCARB2

Linked Data

• dbSNP Id: rs192045590
• gnomAD v2: 4-77110391-G-T
• gnomAD v3: 4-76189238-G-T
• gnomAD v4: 4-76189238-G-T
• MyVariant Identifiers: chr4:g.77110391G>T (hg19) ; chr4:g.76189238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76189238G>T , CM000666.2:g.76189238G>T	GRCh38
NC_000004.11:g.77110391G>T , CM000666.1:g.77110391G>T	GRCh37
NC_000004.10:g.77329415G>T	NCBI36
NG_012054.1:g.29645C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.251+6469C>A
ENST00000264896.8:c.275+6469C>A MANE Select	ENSP00000264896.2:n.275+6469C>A
ENST00000502908.2:n.528+6469C>A
ENST00000509994.2:c.276-4458C>A	ENSP00000420988.1:n.276-4458C>A
ENST00000638295.1:c.-200+6469C>A	ENSP00000492288.1:n.-200+6469C>A
ENST00000638372.1:n.527+6469C>A
ENST00000638603.1:c.275+6469C>A	ENSP00000491728.1:n.275+6469C>A
ENST00000638663.1:c.275+6469C>A	ENSP00000491407.1:n.275+6469C>A
ENST00000638680.1:n.608+6469C>A
ENST00000639145.1:c.275+6469C>A	ENSP00000492831.1:n.275+6469C>A
ENST00000639300.1:c.275+6469C>A	ENSP00000492840.1:n.275+6469C>A
ENST00000639324.1:n.374+6469C>A
ENST00000639715.1:c.240+6469C>A
ENST00000639738.1:c.275+6469C>A	ENSP00000491792.1:n.275+6469C>A
ENST00000640341.1:c.275+6469C>A	ENSP00000492714.1:n.275+6469C>A
ENST00000640634.1:c.252+6469C>A
ENST00000640640.1:c.275+6469C>A	ENSP00000492246.1:n.275+6469C>A
ENST00000640916.1:n.203+6469C>A
ENST00000640957.1:c.275+6469C>A	ENSP00000492004.1:n.275+6469C>A
ENST00000264896.6:c.275+6469C>A	ENSP00000264896.2:n.275+6469C>A
ENST00000452464.6:c.275+6469C>A	ENSP00000399154.2:n.275+6469C>A
ENST00000502908.1:n.139+6469C>A
ENST00000509994.1:c.276-4458C>A	ENSP00000420988.1:n.276-4458C>A
NM_001204255.1:c.275+6469C>A	NP_001191184.1:n.275+6469C>A
NM_005506.3:c.275+6469C>A	NP_005497.1:n.275+6469C>A
NM_005506.4:c.275+6469C>A MANE Select	NP_005497.1:n.275+6469C>A
NM_001204255.2:c.275+6469C>A	NP_001191184.1:n.275+6469C>A