Canonical Allele Identifier: CA2970345

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76180987A>G , CM000666.2:g.76180987A>G	GRCh38
NC_000004.11:g.77102140A>G , CM000666.1:g.77102140A>G	GRCh37
NC_000004.10:g.77321164A>G	NCBI36
NG_012054.1:g.37896T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.390T>C MANE Select	NP_005497.1:p.Ile130=
ENST00000264896.8:c.390T>C MANE Select	ENSP00000264896.2:p.Ile130=
NM_001204255.1:c.276-5077T>C	NP_001191184.1:n.276-5077T>C
NM_001204255.2:c.276-5077T>C	NP_001191184.1:n.276-5077T>C
NM_005506.3:c.390T>C	NP_005497.1:p.Ile130=
ENST00000264896.6:c.390T>C	ENSP00000264896.2:p.Ile130=
ENST00000452464.6:c.276-5077T>C	ENSP00000399154.2:n.276-5077T>C
ENST00000502908.1:n.254T>C
ENST00000502908.2:n.643T>C
ENST00000638295.1:c.-85T>C	ENSP00000492288.1:n.-85T>C
ENST00000638372.1:n.642T>C
ENST00000638603.1:c.390T>C	ENSP00000491728.1:p.Ile130=
ENST00000638663.1:c.390T>C	ENSP00000491407.1:p.Ile130=
ENST00000638680.1:n.723T>C
ENST00000639145.1:c.381T>C	ENSP00000492831.1:p.Ile127=
ENST00000639300.1:c.390T>C	ENSP00000492840.1:p.Ile130=
ENST00000639324.1:n.489T>C
ENST00000639715.1:c.355T>C
ENST00000639738.1:c.276-14686T>C	ENSP00000491792.1:n.276-14686T>C
ENST00000640341.1:c.390T>C	ENSP00000492714.1:p.Ile130=
ENST00000640634.1:c.367T>C
ENST00000640640.1:c.390T>C	ENSP00000492246.1:p.Ile130=
ENST00000640916.1:n.318T>C
ENST00000640957.1:c.390T>C	ENSP00000492004.1:p.Ile130=
ENST00000682785.1:n.366T>C