Canonical Allele Identifier: CA22584083

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53050760A>G , CM000663.2:g.53050760A>G	GRCh38
NC_000001.10:g.53516432A>G , CM000663.1:g.53516432A>G	GRCh37
NC_000001.9:g.53289020A>G	NCBI36
NG_012211.1:g.128485A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.*56A>G MANE Select	NP_002970.2:n.*56A>G
ENST00000371514.8:c.*56A>G MANE Select	ENSP00000360569.3:n.*56A>G
NM_001007099.2:c.*56A>G	NP_001007100.1:n.*56A>G
NM_001007099.3:c.*56A>G	NP_001007100.1:n.*56A>G
NM_001007100.2:c.*56A>G	NP_001007101.1:n.*56A>G
NM_001007100.3:c.*56A>G	NP_001007101.1:n.*56A>G
NM_001007250.2:c.*178A>G	NP_001007251.1:n.*178A>G
NM_001007250.3:c.*178A>G	NP_001007251.1:n.*178A>G
NM_001193599.1:c.*56A>G	NP_001180528.1:n.*56A>G
NM_001193599.2:c.*56A>G	NP_001180528.1:n.*56A>G
NM_001193600.1:c.*56A>G	NP_001180529.1:n.*56A>G
NM_001193600.2:c.*56A>G	NP_001180529.1:n.*56A>G
NM_001193617.1:c.*56A>G	NP_001180546.1:n.*56A>G
NM_001193617.2:c.*56A>G	NP_001180546.1:n.*56A>G
NM_002979.4:c.*56A>G	NP_002970.2:n.*56A>G
ENST00000371509.8:c.*56A>G	ENSP00000360564.4:n.*56A>G
ENST00000371514.7:c.*56A>G	ENSP00000360569.3:n.*56A>G
ENST00000407246.6:c.*56A>G	ENSP00000384569.2:n.*56A>G
ENST00000408941.7:c.*178A>G	ENSP00000386214.3:n.*178A>G
ENST00000430330.6:c.*56A>G	ENSP00000406636.2:n.*56A>G
ENST00000435345.6:c.*56A>G	ENSP00000396413.2:n.*56A>G
ENST00000478631.6:c.*3342A>G	ENSP00000435194.1:n.*3342A>G
ENST00000484100.5:c.413A>G
ENST00000488965.1:c.*2849A>G	ENSP00000435783.1:n.*2849A>G
ENST00000528311.5:c.*56A>G	ENSP00000434132.1:n.*56A>G
ENST00000533119.1:c.440A>G
XM_005271103.3:c.*178A>G	XP_005271160.1:n.*178A>G
XM_005271103.4:c.*178A>G	XP_005271160.1:n.*178A>G