Canonical Allele Identifier: CA99838825

Gene: SCARB2

Linked Data

• dbSNP Id: rs994134382
• gnomAD v2: 4-77100554-A-G
• gnomAD v3: 4-76179401-A-G
• gnomAD v4: 4-76179401-A-G
• MyVariant Identifiers: chr4:g.77100554A>G (hg19) ; chr4:g.76179401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179401A>G , CM000666.2:g.76179401A>G	GRCh38
NC_000004.11:g.77100554A>G , CM000666.1:g.77100554A>G	GRCh37
NC_000004.10:g.77319578A>G	NCBI36
NG_012054.1:g.39482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+116T>C
ENST00000264896.8:c.612+116T>C MANE Select	ENSP00000264896.2:n.612+116T>C
ENST00000502908.2:n.2229T>C
ENST00000638295.1:c.138+116T>C	ENSP00000492288.1:n.138+116T>C
ENST00000638372.1:n.864+116T>C
ENST00000638603.1:c.612+116T>C	ENSP00000491728.1:n.612+116T>C
ENST00000638663.1:c.612+116T>C	ENSP00000491407.1:n.612+116T>C
ENST00000638680.1:n.2193+116T>C
ENST00000639145.1:c.603+116T>C	ENSP00000492831.1:n.603+116T>C
ENST00000639300.1:c.612+116T>C	ENSP00000492840.1:n.612+116T>C
ENST00000639324.1:n.711+116T>C
ENST00000639715.1:c.567+116T>C
ENST00000639738.1:c.276-13100T>C	ENSP00000491792.1:n.276-13100T>C
ENST00000640076.1:n.193+116T>C
ENST00000640341.1:c.*252+116T>C	ENSP00000492714.1:n.*252+116T>C
ENST00000640634.1:c.733+116T>C
ENST00000640640.1:c.612+116T>C	ENSP00000492246.1:n.612+116T>C
ENST00000640916.1:n.656T>C
ENST00000640957.1:c.612+116T>C	ENSP00000492004.1:n.612+116T>C
ENST00000264896.6:c.612+116T>C	ENSP00000264896.2:n.612+116T>C
ENST00000452464.6:c.276-3491T>C	ENSP00000399154.2:n.276-3491T>C
NM_001204255.1:c.276-3491T>C	NP_001191184.1:n.276-3491T>C
NM_005506.3:c.612+116T>C	NP_005497.1:n.612+116T>C
NM_005506.4:c.612+116T>C MANE Select	NP_005497.1:n.612+116T>C
NM_001204255.2:c.276-3491T>C	NP_001191184.1:n.276-3491T>C