Canonical Allele Identifier: CA357314768

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76169950G>A , CM000666.2:g.76169950G>A	GRCh38
NC_000004.11:g.77091103G>A , CM000666.1:g.77091103G>A	GRCh37
NC_000004.10:g.77310127G>A	NCBI36
NG_012054.1:g.48933C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1030C>T MANE Select	NP_005497.1:p.Gln344Ter
ENST00000264896.8:c.1030C>T MANE Select	ENSP00000264896.2:p.Gln344Ter
NM_001204255.1:c.601C>T	NP_001191184.1:p.Gln201Ter
NM_001204255.2:c.601C>T	NP_001191184.1:p.Gln201Ter
NM_005506.3:c.1030C>T	NP_005497.1:p.Gln344Ter
ENST00000264896.6:c.1030C>T	ENSP00000264896.2:p.Gln344Ter
ENST00000452464.6:c.601C>T	ENSP00000399154.2:p.Gln201Ter
ENST00000638295.1:c.556C>T	ENSP00000492288.1:p.Gln186Ter
ENST00000638372.1:n.1282C>T
ENST00000638603.1:c.910C>T	ENSP00000491728.1:p.Gln304Ter
ENST00000638663.1:c.1030C>T	ENSP00000491407.1:p.Gln344Ter
ENST00000638680.1:n.2611C>T
ENST00000639145.1:c.1021C>T	ENSP00000492831.1:p.Gln341Ter
ENST00000639300.1:c.*317C>T	ENSP00000492840.1:n.*317C>T
ENST00000639715.1:c.985C>T
ENST00000639738.1:c.276-3649C>T	ENSP00000491792.1:n.276-3649C>T
ENST00000640341.1:c.*670C>T	ENSP00000492714.1:n.*670C>T
ENST00000640634.1:c.1151C>T
ENST00000640640.1:c.1030C>T	ENSP00000492246.1:p.Gln344Ter
ENST00000640957.1:c.1030C>T	ENSP00000492004.1:p.Gln344Ter
ENST00000682785.1:n.1006C>T