Canonical Allele Identifier: CA357326842

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100760G>C (hg19) ; chr4:g.76179607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179607G>C , CM000666.2:g.76179607G>C	GRCh38
NC_000004.11:g.77100760G>C , CM000666.1:g.77100760G>C	GRCh37
NC_000004.10:g.77319784G>C	NCBI36
NG_012054.1:g.39276C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.498C>G
ENST00000264896.8:c.522C>G MANE Select	ENSP00000264896.2:p.Asp174Glu
ENST00000502908.2:n.2023C>G
ENST00000638295.1:c.48C>G	ENSP00000492288.1:p.Asp16Glu
ENST00000638372.1:n.774C>G
ENST00000638603.1:c.522C>G	ENSP00000491728.1:p.Asp174Glu
ENST00000638663.1:c.522C>G	ENSP00000491407.1:p.Asp174Glu
ENST00000638680.1:n.2103C>G
ENST00000639145.1:c.513C>G	ENSP00000492831.1:p.Asp171Glu
ENST00000639300.1:c.522C>G	ENSP00000492840.1:p.Asp174Glu
ENST00000639324.1:n.621C>G
ENST00000639715.1:c.477C>G
ENST00000639738.1:c.276-13306C>G	ENSP00000491792.1:n.276-13306C>G
ENST00000640076.1:n.103C>G
ENST00000640341.1:c.*162C>G	ENSP00000492714.1:n.*162C>G
ENST00000640634.1:c.643C>G
ENST00000640640.1:c.522C>G	ENSP00000492246.1:p.Asp174Glu
ENST00000640916.1:n.450C>G
ENST00000640957.1:c.522C>G	ENSP00000492004.1:p.Asp174Glu
ENST00000264896.6:c.522C>G	ENSP00000264896.2:p.Asp174Glu
ENST00000452464.6:c.276-3697C>G	ENSP00000399154.2:n.276-3697C>G
NM_001204255.1:c.276-3697C>G	NP_001191184.1:n.276-3697C>G
NM_005506.3:c.522C>G	NP_005497.1:p.Asp174Glu
NM_005506.4:c.522C>G MANE Select	NP_005497.1:p.Asp174Glu
NM_001204255.2:c.276-3697C>G	NP_001191184.1:n.276-3697C>G