Canonical Allele Identifier: CA357326947

Gene: SCARB2

Linked Data

• gnomAD v4: 4-76179652-C-G
• MyVariant Identifiers: chr4:g.77100805C>G (hg19) ; chr4:g.76179652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179652C>G , CM000666.2:g.76179652C>G	GRCh38
NC_000004.11:g.77100805C>G , CM000666.1:g.77100805C>G	GRCh37
NC_000004.10:g.77319829C>G	NCBI36
NG_012054.1:g.39231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.453G>C
ENST00000264896.8:c.477G>C MANE Select	ENSP00000264896.2:p.Met159Ile
ENST00000502908.2:n.1978G>C
ENST00000638295.1:c.3G>C	ENSP00000492288.1:p.Met1Ile
ENST00000638372.1:n.729G>C
ENST00000638603.1:c.477G>C	ENSP00000491728.1:p.Met159Ile
ENST00000638663.1:c.477G>C	ENSP00000491407.1:p.Met159Ile
ENST00000638680.1:n.2058G>C
ENST00000639145.1:c.468G>C	ENSP00000492831.1:p.Met156Ile
ENST00000639300.1:c.477G>C	ENSP00000492840.1:p.Met159Ile
ENST00000639324.1:n.576G>C
ENST00000639715.1:c.432G>C
ENST00000639738.1:c.276-13351G>C	ENSP00000491792.1:n.276-13351G>C
ENST00000640076.1:n.58G>C
ENST00000640341.1:c.*117G>C	ENSP00000492714.1:n.*117G>C
ENST00000640634.1:c.598G>C
ENST00000640640.1:c.477G>C	ENSP00000492246.1:p.Met159Ile
ENST00000640916.1:n.405G>C
ENST00000640957.1:c.477G>C	ENSP00000492004.1:p.Met159Ile
ENST00000264896.6:c.477G>C	ENSP00000264896.2:p.Met159Ile
ENST00000452464.6:c.276-3742G>C	ENSP00000399154.2:n.276-3742G>C
NM_001204255.1:c.276-3742G>C	NP_001191184.1:n.276-3742G>C
NM_005506.3:c.477G>C	NP_005497.1:p.Met159Ile
NM_005506.4:c.477G>C MANE Select	NP_005497.1:p.Met159Ile
NM_001204255.2:c.276-3742G>C	NP_001191184.1:n.276-3742G>C