Canonical Allele Identifier: CA22586834

Gene: SCP2

Linked Data

• dbSNP Id: rs139855336
• gnomAD v2: 1-53402222-T-A
• gnomAD v3: 1-52936550-T-A
• gnomAD v4: 1-52936550-T-A
• MyVariant Identifiers: chr1:g.53402222T>A (hg19) ; chr1:g.52936550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52936550T>A , CM000663.2:g.52936550T>A	GRCh38
NC_000001.10:g.53402222T>A , CM000663.1:g.53402222T>A	GRCh37
NC_000001.9:g.53174810T>A	NCBI36
NG_012211.1:g.14275T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371514.8:c.70-5246T>A MANE Select	ENSP00000360569.3:n.70-5246T>A
ENST00000371509.8:c.70-5246T>A	ENSP00000360564.4:n.70-5246T>A
ENST00000371513.9:c.70-5246T>A	ENSP00000360568.5:n.70-5246T>A
ENST00000371514.7:c.70-5246T>A	ENSP00000360569.3:n.70-5246T>A
ENST00000407246.6:c.70-5246T>A	ENSP00000384569.2:n.70-5246T>A
ENST00000478631.6:c.70-5246T>A	ENSP00000435194.1:n.70-5246T>A
ENST00000528311.5:c.-117+9085T>A	ENSP00000434132.1:n.-117+9085T>A
ENST00000528809.1:n.87-5246T>A
NM_001007098.2:c.70-5246T>A	NP_001007099.1:n.70-5246T>A
NM_001193599.1:c.70-5246T>A	NP_001180528.1:n.70-5246T>A
NM_001193600.1:c.70-5246T>A	NP_001180529.1:n.70-5246T>A
NM_001193617.1:c.-117+9085T>A	NP_001180546.1:n.-117+9085T>A
NM_002979.4:c.70-5246T>A	NP_002970.2:n.70-5246T>A
XM_005271103.3:c.70-5246T>A	XP_005271160.1:n.70-5246T>A
XM_011541935.1:c.70-5246T>A	XP_011540237.1:n.70-5246T>A
NM_001330587.1:c.70-5246T>A	NP_001317516.1:n.70-5246T>A
XM_005271103.4:c.70-5246T>A	XP_005271160.1:n.70-5246T>A
XM_011541935.2:c.70-5246T>A	XP_011540237.1:n.70-5246T>A
NM_002979.5:c.70-5246T>A MANE Select	NP_002970.2:n.70-5246T>A
NM_001193599.2:c.70-5246T>A	NP_001180528.1:n.70-5246T>A
NM_001193600.2:c.70-5246T>A	NP_001180529.1:n.70-5246T>A
NM_001193617.2:c.-117+9085T>A	NP_001180546.1:n.-117+9085T>A
NM_001007098.3:c.70-5246T>A	NP_001007099.1:n.70-5246T>A
NM_001330587.2:c.70-5246T>A	NP_001317516.1:n.70-5246T>A