Canonical Allele Identifier: CA22567908

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53028160T>C , CM000663.2:g.53028160T>C	GRCh38
NC_000001.10:g.53493832T>C , CM000663.1:g.53493832T>C	GRCh37
NC_000001.9:g.53266420T>C	NCBI36
NG_012211.1:g.105885T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.1338+89T>C MANE Select	NP_002970.2:n.1338+89T>C
ENST00000371514.8:c.1338+89T>C MANE Select	ENSP00000360569.3:n.1338+89T>C
NM_001007099.2:c.126+89T>C	NP_001007100.1:n.126+89T>C
NM_001007099.3:c.126+89T>C	NP_001007100.1:n.126+89T>C
NM_001007100.2:c.117+89T>C	NP_001007101.1:n.117+89T>C
NM_001007100.3:c.117+89T>C	NP_001007101.1:n.117+89T>C
NM_001007250.2:c.126+89T>C	NP_001007251.1:n.126+89T>C
NM_001007250.3:c.126+89T>C	NP_001007251.1:n.126+89T>C
NM_001193599.1:c.1266+89T>C	NP_001180528.1:n.1266+89T>C
NM_001193599.2:c.1266+89T>C	NP_001180528.1:n.1266+89T>C
NM_001193600.1:c.1206+89T>C	NP_001180529.1:n.1206+89T>C
NM_001193600.2:c.1206+89T>C	NP_001180529.1:n.1206+89T>C
NM_001193617.1:c.1095+89T>C	NP_001180546.1:n.1095+89T>C
NM_001193617.2:c.1095+89T>C	NP_001180546.1:n.1095+89T>C
NM_002979.4:c.1338+89T>C	NP_002970.2:n.1338+89T>C
ENST00000371509.8:c.1206+89T>C	ENSP00000360564.4:n.1206+89T>C
ENST00000371514.7:c.1338+89T>C	ENSP00000360569.3:n.1338+89T>C
ENST00000407246.6:c.1266+89T>C	ENSP00000384569.2:n.1266+89T>C
ENST00000408941.7:c.126+89T>C	ENSP00000386214.3:n.126+89T>C
ENST00000430330.6:c.117+89T>C	ENSP00000406636.2:n.117+89T>C
ENST00000435345.6:c.126+89T>C	ENSP00000396413.2:n.126+89T>C
ENST00000478274.6:c.181+89T>C
ENST00000478631.6:c.*2980+89T>C	ENSP00000435194.1:n.*2980+89T>C
ENST00000484100.5:c.181+89T>C
ENST00000488965.1:c.126+89T>C	ENSP00000435783.1:n.126+89T>C
ENST00000528311.5:c.1095+89T>C	ENSP00000434132.1:n.1095+89T>C
ENST00000533119.1:c.79-10757T>C
XM_005271103.3:c.1338+89T>C	XP_005271160.1:n.1338+89T>C
XM_005271103.4:c.1338+89T>C	XP_005271160.1:n.1338+89T>C