Canonical Allele Identifier: CA857276

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52988042G>T , CM000663.2:g.52988042G>T	GRCh38
NC_000001.10:g.53453714G>T , CM000663.1:g.53453714G>T	GRCh37
NC_000001.9:g.53226302G>T	NCBI36
NG_012211.1:g.65767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371514.8:c.987G>T MANE Select	ENSP00000360569.3:p.Thr329=
ENST00000371509.8:c.855G>T	ENSP00000360564.4:p.Thr285=
ENST00000371513.9:c.855G>T	ENSP00000360568.5:p.Thr285=
ENST00000371514.7:c.987G>T	ENSP00000360569.3:p.Thr329=
ENST00000407246.6:c.915G>T	ENSP00000384569.2:p.Thr305=
ENST00000473584.1:n.544G>T
ENST00000478631.6:c.987G>T	ENSP00000435194.1:p.Thr329=
ENST00000528311.5:c.744G>T	ENSP00000434132.1:p.Thr248=
NM_001007098.2:c.855G>T	NP_001007099.1:p.Thr285=
NM_001193599.1:c.915G>T	NP_001180528.1:p.Thr305=
NM_001193600.1:c.855G>T	NP_001180529.1:p.Thr285=
NM_001193617.1:c.744G>T	NP_001180546.1:p.Thr248=
NM_002979.4:c.987G>T	NP_002970.2:p.Thr329=
XM_005271103.3:c.987G>T	XP_005271160.1:p.Thr329=
XM_011541935.1:c.987G>T	XP_011540237.1:p.Thr329=
NM_001330587.1:c.987G>T	NP_001317516.1:p.Thr329=
XM_005271103.4:c.987G>T	XP_005271160.1:p.Thr329=
XM_011541935.2:c.987G>T	XP_011540237.1:p.Thr329=
NM_002979.5:c.987G>T MANE Select	NP_002970.2:p.Thr329=
NM_001193599.2:c.915G>T	NP_001180528.1:p.Thr305=
NM_001193600.2:c.855G>T	NP_001180529.1:p.Thr285=
NM_001193617.2:c.744G>T	NP_001180546.1:p.Thr248=
NM_001007098.3:c.855G>T	NP_001007099.1:p.Thr285=
NM_001330587.2:c.987G>T	NP_001317516.1:p.Thr329=