Canonical Allele Identifier: CA857209

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52978229T>C , CM000663.2:g.52978229T>C	GRCh38
NC_000001.10:g.53443901T>C , CM000663.1:g.53443901T>C	GRCh37
NC_000001.9:g.53216489T>C	NCBI36
NG_012211.1:g.55954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371514.8:c.687T>C MANE Select	ENSP00000360569.3:p.Asp229=
ENST00000371509.8:c.555T>C	ENSP00000360564.4:p.Asp185=
ENST00000371513.9:c.555T>C	ENSP00000360568.5:p.Asp185=
ENST00000371514.7:c.687T>C	ENSP00000360569.3:p.Asp229=
ENST00000407246.6:c.615T>C	ENSP00000384569.2:p.Asp205=
ENST00000473584.1:n.244T>C
ENST00000478631.6:c.687T>C	ENSP00000435194.1:p.Asp229=
ENST00000528311.5:c.444T>C	ENSP00000434132.1:p.Asp148=
ENST00000529363.2:c.524T>C
NM_001007098.2:c.555T>C	NP_001007099.1:p.Asp185=
NM_001193599.1:c.615T>C	NP_001180528.1:p.Asp205=
NM_001193600.1:c.555T>C	NP_001180529.1:p.Asp185=
NM_001193617.1:c.444T>C	NP_001180546.1:p.Asp148=
NM_002979.4:c.687T>C	NP_002970.2:p.Asp229=
XM_005271103.3:c.687T>C	XP_005271160.1:p.Asp229=
XM_011541935.1:c.687T>C	XP_011540237.1:p.Asp229=
NM_001330587.1:c.687T>C	NP_001317516.1:p.Asp229=
XM_005271103.4:c.687T>C	XP_005271160.1:p.Asp229=
XM_011541935.2:c.687T>C	XP_011540237.1:p.Asp229=
NM_002979.5:c.687T>C MANE Select	NP_002970.2:p.Asp229=
NM_001193599.2:c.615T>C	NP_001180528.1:p.Asp205=
NM_001193600.2:c.555T>C	NP_001180529.1:p.Asp185=
NM_001193617.2:c.444T>C	NP_001180546.1:p.Asp148=
NM_001007098.3:c.555T>C	NP_001007099.1:p.Asp185=
NM_001330587.2:c.687T>C	NP_001317516.1:p.Asp229=