Canonical Allele Identifier: CA22590900

Gene: SCP2 RRAS2P1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52993383C>T , CM000663.2:g.52993383C>T	GRCh38
NC_000001.10:g.53459055C>T , CM000663.1:g.53459055C>T	GRCh37
NC_000001.9:g.53231643C>T	NCBI36
NG_012211.1:g.71108C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.1081+5247C>T (SCP2) MANE Select	NP_002970.2:n.1081+5247C>T
ENST00000371514.8:c.1081+5247C>T (SCP2) MANE Select	ENSP00000360569.3:n.1081+5247C>T
NM_001007098.2:c.*106C>T (SCP2)	NP_001007099.1:n.*106C>T
NM_001007098.3:c.*106C>T (SCP2)	NP_001007099.1:n.*106C>T
NM_001193599.1:c.1009+5247C>T (SCP2)	NP_001180528.1:n.1009+5247C>T
NM_001193599.2:c.1009+5247C>T (SCP2)	NP_001180528.1:n.1009+5247C>T
NM_001193600.1:c.949+5247C>T (SCP2)	NP_001180529.1:n.949+5247C>T
NM_001193600.2:c.949+5247C>T (SCP2)	NP_001180529.1:n.949+5247C>T
NM_001193617.1:c.838+5247C>T (SCP2)	NP_001180546.1:n.838+5247C>T
NM_001193617.2:c.838+5247C>T (SCP2)	NP_001180546.1:n.838+5247C>T
NM_001330587.1:c.*106C>T (SCP2)	NP_001317516.1:n.*106C>T
NM_001330587.2:c.*106C>T (SCP2)	NP_001317516.1:n.*106C>T
NM_002979.4:c.1081+5247C>T (SCP2)	NP_002970.2:n.1081+5247C>T
ENST00000371509.8:c.949+5247C>T (SCP2)	ENSP00000360564.4:n.949+5247C>T
ENST00000371513.9:c.*106C>T (SCP2)	ENSP00000360568.5:n.*106C>T
ENST00000371514.7:c.1081+5247C>T (SCP2)	ENSP00000360569.3:n.1081+5247C>T
ENST00000407246.6:c.1009+5247C>T (SCP2)	ENSP00000384569.2:n.1009+5247C>T
ENST00000414168.1:n.320G>A (RRAS2P1)
ENST00000478631.6:c.*106C>T (SCP2)	ENSP00000435194.1:n.*106C>T
ENST00000528311.5:c.838+5247C>T (SCP2)	ENSP00000434132.1:n.838+5247C>T
XM_005271103.3:c.1081+5247C>T (SCP2)	XP_005271160.1:n.1081+5247C>T
XM_005271103.4:c.1081+5247C>T (SCP2)	XP_005271160.1:n.1081+5247C>T
XM_011541935.1:c.1081+5247C>T (SCP2)	XP_011540237.1:n.1081+5247C>T
XM_011541935.2:c.1081+5247C>T (SCP2)	XP_011540237.1:n.1081+5247C>T