Canonical Allele Identifier: CA2671071171

Gene: SCARB2

Linked Data

• gnomAD v4: 4-76179465-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179465C>A , CM000666.2:g.76179465C>A	GRCh38
NC_000004.11:g.77100618C>A , CM000666.1:g.77100618C>A	GRCh37
NC_000004.10:g.77319642C>A	NCBI36
NG_012054.1:g.39418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+52G>T
ENST00000264896.8:c.612+52G>T MANE Select	ENSP00000264896.2:n.612+52G>T
ENST00000502908.2:n.2165G>T
ENST00000638295.1:c.138+52G>T	ENSP00000492288.1:n.138+52G>T
ENST00000638372.1:n.864+52G>T
ENST00000638603.1:c.612+52G>T	ENSP00000491728.1:n.612+52G>T
ENST00000638663.1:c.612+52G>T	ENSP00000491407.1:n.612+52G>T
ENST00000638680.1:n.2193+52G>T
ENST00000639145.1:c.603+52G>T	ENSP00000492831.1:n.603+52G>T
ENST00000639300.1:c.612+52G>T	ENSP00000492840.1:n.612+52G>T
ENST00000639324.1:n.711+52G>T
ENST00000639715.1:c.567+52G>T
ENST00000639738.1:c.276-13164G>T	ENSP00000491792.1:n.276-13164G>T
ENST00000640076.1:n.193+52G>T
ENST00000640341.1:c.*252+52G>T	ENSP00000492714.1:n.*252+52G>T
ENST00000640634.1:c.733+52G>T
ENST00000640640.1:c.612+52G>T	ENSP00000492246.1:n.612+52G>T
ENST00000640916.1:n.592G>T
ENST00000640957.1:c.612+52G>T	ENSP00000492004.1:n.612+52G>T
ENST00000264896.6:c.612+52G>T	ENSP00000264896.2:n.612+52G>T
ENST00000452464.6:c.276-3555G>T	ENSP00000399154.2:n.276-3555G>T
NM_001204255.1:c.276-3555G>T	NP_001191184.1:n.276-3555G>T
NM_005506.3:c.612+52G>T	NP_005497.1:n.612+52G>T
NM_005506.4:c.612+52G>T MANE Select	NP_005497.1:n.612+52G>T
NM_001204255.2:c.276-3555G>T	NP_001191184.1:n.276-3555G>T