Canonical Allele Identifier: CA2580063029

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53027965C>T , CM000663.2:g.53027965C>T	GRCh38
NC_000001.10:g.53493637C>T , CM000663.1:g.53493637C>T	GRCh37
NC_000001.9:g.53266225C>T	NCBI36
NG_012211.1:g.105690C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.1236-4C>T MANE Select	NP_002970.2:n.1236-4C>T
ENST00000371514.8:c.1236-4C>T MANE Select	ENSP00000360569.3:n.1236-4C>T
NM_001007099.2:c.24-4C>T	NP_001007100.1:n.24-4C>T
NM_001007099.3:c.24-4C>T	NP_001007100.1:n.24-4C>T
NM_001007100.2:c.24-13C>T	NP_001007101.1:n.24-13C>T
NM_001007100.3:c.24-13C>T	NP_001007101.1:n.24-13C>T
NM_001007250.2:c.24-4C>T	NP_001007251.1:n.24-4C>T
NM_001007250.3:c.24-4C>T	NP_001007251.1:n.24-4C>T
NM_001193599.1:c.1164-4C>T	NP_001180528.1:n.1164-4C>T
NM_001193599.2:c.1164-4C>T	NP_001180528.1:n.1164-4C>T
NM_001193600.1:c.1104-4C>T	NP_001180529.1:n.1104-4C>T
NM_001193600.2:c.1104-4C>T	NP_001180529.1:n.1104-4C>T
NM_001193617.1:c.993-4C>T	NP_001180546.1:n.993-4C>T
NM_001193617.2:c.993-4C>T	NP_001180546.1:n.993-4C>T
NM_002979.4:c.1236-4C>T	NP_002970.2:n.1236-4C>T
ENST00000371509.8:c.1104-4C>T	ENSP00000360564.4:n.1104-4C>T
ENST00000371514.7:c.1236-4C>T	ENSP00000360569.3:n.1236-4C>T
ENST00000407246.6:c.1164-4C>T	ENSP00000384569.2:n.1164-4C>T
ENST00000408941.7:c.24-4C>T	ENSP00000386214.3:n.24-4C>T
ENST00000430330.6:c.24-13C>T	ENSP00000406636.2:n.24-13C>T
ENST00000435345.6:c.24-4C>T	ENSP00000396413.2:n.24-4C>T
ENST00000478274.6:c.79-4C>T
ENST00000478631.6:c.*2878-4C>T	ENSP00000435194.1:n.*2878-4C>T
ENST00000484100.5:c.79-4C>T
ENST00000488965.1:c.24-4C>T	ENSP00000435783.1:n.24-4C>T
ENST00000528311.5:c.993-4C>T	ENSP00000434132.1:n.993-4C>T
ENST00000533119.1:c.79-10952C>T
XM_005271103.3:c.1236-4C>T	XP_005271160.1:n.1236-4C>T
XM_005271103.4:c.1236-4C>T	XP_005271160.1:n.1236-4C>T