Canonical Allele Identifier: CA857229

Gene: SCP2

Linked Data

• ClinVar Variation Id: 488590
• ClinVar RCV Id: RCV000578448 ; RCV001860007 ; RCV003409851
• dbSNP Id: rs144132787
• ExAC: 1:53444040 G / T
• gnomAD v2: 1-53444040-G-T
• gnomAD v3: 1-52978368-G-T
• gnomAD v4: 1-52978368-G-T
• MyVariant Identifiers: chr1:g.53444040G>T (hg19) ; chr1:g.52978368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52978368G>T , CM000663.2:g.52978368G>T	GRCh38
NC_000001.10:g.53444040G>T , CM000663.1:g.53444040G>T	GRCh37
NC_000001.9:g.53216628G>T	NCBI36
NG_012211.1:g.56093G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371514.8:c.825+1G>T MANE Select	ENSP00000360569.3:n.825+1G>T
ENST00000371509.8:c.693+1G>T	ENSP00000360564.4:n.693+1G>T
ENST00000371513.9:c.693+1G>T	ENSP00000360568.5:n.693+1G>T
ENST00000371514.7:c.825+1G>T	ENSP00000360569.3:n.825+1G>T
ENST00000407246.6:c.753+1G>T	ENSP00000384569.2:n.753+1G>T
ENST00000473584.1:n.382+1G>T
ENST00000478631.6:c.825+1G>T	ENSP00000435194.1:n.825+1G>T
ENST00000528311.5:c.582+1G>T	ENSP00000434132.1:n.582+1G>T
ENST00000529363.2:c.662+1G>T
NM_001007098.2:c.693+1G>T	NP_001007099.1:n.693+1G>T
NM_001193599.1:c.753+1G>T	NP_001180528.1:n.753+1G>T
NM_001193600.1:c.693+1G>T	NP_001180529.1:n.693+1G>T
NM_001193617.1:c.582+1G>T	NP_001180546.1:n.582+1G>T
NM_002979.4:c.825+1G>T	NP_002970.2:n.825+1G>T
XM_005271103.3:c.825+1G>T	XP_005271160.1:n.825+1G>T
XM_011541935.1:c.825+1G>T	XP_011540237.1:n.825+1G>T
NM_001330587.1:c.825+1G>T	NP_001317516.1:n.825+1G>T
XM_005271103.4:c.825+1G>T	XP_005271160.1:n.825+1G>T
XM_011541935.2:c.825+1G>T	XP_011540237.1:n.825+1G>T
NM_002979.5:c.825+1G>T MANE Select	NP_002970.2:n.825+1G>T
NM_001193599.2:c.753+1G>T	NP_001180528.1:n.753+1G>T
NM_001193600.2:c.693+1G>T	NP_001180529.1:n.693+1G>T
NM_001193617.2:c.582+1G>T	NP_001180546.1:n.582+1G>T
NM_001007098.3:c.693+1G>T	NP_001007099.1:n.693+1G>T
NM_001330587.2:c.825+1G>T	NP_001317516.1:n.825+1G>T