Canonical Allele Identifier: CA2671070960

Gene: SCARB2

Linked Data

• gnomAD v4: 4-76179301-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179301A>G , CM000666.2:g.76179301A>G	GRCh38
NC_000004.11:g.77100454A>G , CM000666.1:g.77100454A>G	GRCh37
NC_000004.10:g.77319478A>G	NCBI36
NG_012054.1:g.39582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+216T>C
ENST00000264896.8:c.612+216T>C MANE Select	ENSP00000264896.2:n.612+216T>C
ENST00000502908.2:n.2329T>C
ENST00000638295.1:c.138+216T>C	ENSP00000492288.1:n.138+216T>C
ENST00000638372.1:n.864+216T>C
ENST00000638603.1:c.612+216T>C	ENSP00000491728.1:n.612+216T>C
ENST00000638663.1:c.612+216T>C	ENSP00000491407.1:n.612+216T>C
ENST00000638680.1:n.2193+216T>C
ENST00000639145.1:c.603+216T>C	ENSP00000492831.1:n.603+216T>C
ENST00000639300.1:c.612+216T>C	ENSP00000492840.1:n.612+216T>C
ENST00000639324.1:n.711+216T>C
ENST00000639715.1:c.567+216T>C
ENST00000639738.1:c.276-13000T>C	ENSP00000491792.1:n.276-13000T>C
ENST00000640076.1:n.193+216T>C
ENST00000640341.1:c.*252+216T>C	ENSP00000492714.1:n.*252+216T>C
ENST00000640634.1:c.733+216T>C
ENST00000640640.1:c.612+216T>C	ENSP00000492246.1:n.612+216T>C
ENST00000640957.1:c.612+216T>C	ENSP00000492004.1:n.612+216T>C
ENST00000264896.6:c.612+216T>C	ENSP00000264896.2:n.612+216T>C
ENST00000452464.6:c.276-3391T>C	ENSP00000399154.2:n.276-3391T>C
NM_001204255.1:c.276-3391T>C	NP_001191184.1:n.276-3391T>C
NM_005506.3:c.612+216T>C	NP_005497.1:n.612+216T>C
NM_005506.4:c.612+216T>C MANE Select	NP_005497.1:n.612+216T>C
NM_001204255.2:c.276-3391T>C	NP_001191184.1:n.276-3391T>C