Canonical Allele Identifier: CA10806762

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52951049G>A , CM000663.2:g.52951049G>A	GRCh38
NC_000001.10:g.53416721G>A , CM000663.1:g.53416721G>A	GRCh37
NC_000001.9:g.53189309G>A	NCBI36
NG_012211.1:g.28774G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.331+163G>A MANE Select	NP_002970.2:n.331+163G>A
ENST00000371514.8:c.331+163G>A MANE Select	ENSP00000360569.3:n.331+163G>A
NM_001007098.2:c.199+2969G>A	NP_001007099.1:n.199+2969G>A
NM_001007098.3:c.199+2969G>A	NP_001007099.1:n.199+2969G>A
NM_001193599.1:c.259+163G>A	NP_001180528.1:n.259+163G>A
NM_001193599.2:c.259+163G>A	NP_001180528.1:n.259+163G>A
NM_001193600.1:c.199+2969G>A	NP_001180529.1:n.199+2969G>A
NM_001193600.2:c.199+2969G>A	NP_001180529.1:n.199+2969G>A
NM_001193617.1:c.88+163G>A	NP_001180546.1:n.88+163G>A
NM_001193617.2:c.88+163G>A	NP_001180546.1:n.88+163G>A
NM_001330587.1:c.331+163G>A	NP_001317516.1:n.331+163G>A
NM_001330587.2:c.331+163G>A	NP_001317516.1:n.331+163G>A
NM_002979.4:c.331+163G>A	NP_002970.2:n.331+163G>A
ENST00000371509.8:c.199+2969G>A	ENSP00000360564.4:n.199+2969G>A
ENST00000371513.9:c.199+2969G>A	ENSP00000360568.5:n.199+2969G>A
ENST00000371514.7:c.331+163G>A	ENSP00000360569.3:n.331+163G>A
ENST00000407246.6:c.259+163G>A	ENSP00000384569.2:n.259+163G>A
ENST00000478631.6:c.331+163G>A	ENSP00000435194.1:n.331+163G>A
ENST00000528311.5:c.88+163G>A	ENSP00000434132.1:n.88+163G>A
ENST00000528809.1:n.348+163G>A
ENST00000529363.2:c.255+163G>A
XM_005271103.3:c.331+163G>A	XP_005271160.1:n.331+163G>A
XM_005271103.4:c.331+163G>A	XP_005271160.1:n.331+163G>A
XM_011541935.1:c.331+163G>A	XP_011540237.1:n.331+163G>A
XM_011541935.2:c.331+163G>A	XP_011540237.1:n.331+163G>A