Canonical Allele Identifier: CA16618054

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 420391
• ClinVar RCV Id: RCV000479603 ; RCV001220059 ; RCV002481515 ; RCV002525835
• dbSNP Id: rs1064794450
• gnomAD v2: 4-77084451-A-G
• gnomAD v3: 4-76163298-A-G
• gnomAD v4: 4-76163298-A-G
• MyVariant Identifiers: chr4:g.77084451A>G (hg19) ; chr4:g.76163298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76163298A>G , CM000666.2:g.76163298A>G	GRCh38
NC_000004.11:g.77084451A>G , CM000666.1:g.77084451A>G	GRCh37
NC_000004.10:g.77303475A>G	NCBI36
NG_012054.1:g.55585T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.1301T>C
ENST00000264896.8:c.1325T>C MANE Select	ENSP00000264896.2:p.Ile442Thr
ENST00000511129.2:n.701T>C
ENST00000638295.1:c.851T>C	ENSP00000492288.1:p.Ile284Thr
ENST00000638372.1:n.4443T>C
ENST00000638603.1:c.1205T>C	ENSP00000491728.1:p.Ile402Thr
ENST00000638663.1:c.*107T>C	ENSP00000491407.1:n.*107T>C
ENST00000638680.1:n.2906T>C
ENST00000639145.1:c.1316T>C	ENSP00000492831.1:p.Ile439Thr
ENST00000639300.1:c.*612T>C	ENSP00000492840.1:n.*612T>C
ENST00000639715.1:c.1280T>C
ENST00000639738.1:c.413T>C	ENSP00000491792.1:p.Ile138Thr
ENST00000640341.1:c.*965T>C	ENSP00000492714.1:n.*965T>C
ENST00000640634.1:c.1446T>C
ENST00000640640.1:c.1325T>C	ENSP00000492246.1:p.Ile442Thr
ENST00000640880.1:c.138T>C
ENST00000640900.1:n.160T>C
ENST00000640957.1:c.1325T>C	ENSP00000492004.1:p.Ile442Thr
ENST00000264896.6:c.1325T>C	ENSP00000264896.2:p.Ile442Thr
ENST00000452464.6:c.896T>C	ENSP00000399154.2:p.Ile299Thr
ENST00000511129.1:n.701T>C
NM_001204255.1:c.896T>C	NP_001191184.1:p.Ile299Thr
NM_005506.3:c.1325T>C	NP_005497.1:p.Ile442Thr
NM_005506.4:c.1325T>C MANE Select	NP_005497.1:p.Ile442Thr
NM_001204255.2:c.896T>C	NP_001191184.1:p.Ile299Thr