Canonical Allele Identifier: CA357326710

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100702C>G (hg19) ; chr4:g.76179549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179549C>G , CM000666.2:g.76179549C>G	GRCh38
NC_000004.11:g.77100702C>G , CM000666.1:g.77100702C>G	GRCh37
NC_000004.10:g.77319726C>G	NCBI36
NG_012054.1:g.39334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.556G>C
ENST00000264896.8:c.580G>C MANE Select	ENSP00000264896.2:p.Asp194His
ENST00000502908.2:n.2081G>C
ENST00000638295.1:c.106G>C	ENSP00000492288.1:p.Asp36His
ENST00000638372.1:n.832G>C
ENST00000638603.1:c.580G>C	ENSP00000491728.1:p.Asp194His
ENST00000638663.1:c.580G>C	ENSP00000491407.1:p.Asp194His
ENST00000638680.1:n.2161G>C
ENST00000639145.1:c.571G>C	ENSP00000492831.1:p.Asp191His
ENST00000639300.1:c.580G>C	ENSP00000492840.1:p.Asp194His
ENST00000639324.1:n.679G>C
ENST00000639715.1:c.535G>C
ENST00000639738.1:c.276-13248G>C	ENSP00000491792.1:n.276-13248G>C
ENST00000640076.1:n.161G>C
ENST00000640341.1:c.*220G>C	ENSP00000492714.1:n.*220G>C
ENST00000640634.1:c.701G>C
ENST00000640640.1:c.580G>C	ENSP00000492246.1:p.Asp194His
ENST00000640916.1:n.508G>C
ENST00000640957.1:c.580G>C	ENSP00000492004.1:p.Asp194His
ENST00000264896.6:c.580G>C	ENSP00000264896.2:p.Asp194His
ENST00000452464.6:c.276-3639G>C	ENSP00000399154.2:n.276-3639G>C
NM_001204255.1:c.276-3639G>C	NP_001191184.1:n.276-3639G>C
NM_005506.3:c.580G>C	NP_005497.1:p.Asp194His
NM_005506.4:c.580G>C MANE Select	NP_005497.1:p.Asp194His
NM_001204255.2:c.276-3639G>C	NP_001191184.1:n.276-3639G>C