Canonical Allele Identifier: CA340386325

Gene: SCP2

Linked Data

• ClinVar Variation Id: 523456
• ClinVar RCV Id: RCV003444609
• dbSNP Id: rs1553143461
• MyVariant Identifiers: chr1:g.53413752G>A (hg19) ; chr1:g.52948080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52948080G>A , CM000663.2:g.52948080G>A	GRCh38
NC_000001.10:g.53413752G>A , CM000663.1:g.53413752G>A	GRCh37
NC_000001.9:g.53186340G>A	NCBI36
NG_012211.1:g.25805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371514.8:c.199G>A MANE Select	ENSP00000360569.3:p.Gly67Ser
ENST00000371509.8:c.199G>A	ENSP00000360564.4:p.Gly67Ser
ENST00000371513.9:c.199G>A	ENSP00000360568.5:p.Gly67Ser
ENST00000371514.7:c.199G>A	ENSP00000360569.3:p.Gly67Ser
ENST00000407246.6:c.128-2675G>A	ENSP00000384569.2:n.128-2675G>A
ENST00000478631.6:c.199G>A	ENSP00000435194.1:p.Gly67Ser
ENST00000528311.5:c.-45G>A	ENSP00000434132.1:n.-45G>A
ENST00000528809.1:n.216G>A
ENST00000529363.2:c.123G>A
NM_001007098.2:c.199G>A	NP_001007099.1:p.Gly67Ser
NM_001193599.1:c.128-2675G>A	NP_001180528.1:n.128-2675G>A
NM_001193600.1:c.199G>A	NP_001180529.1:p.Gly67Ser
NM_001193617.1:c.-45G>A	NP_001180546.1:n.-45G>A
NM_002979.4:c.199G>A	NP_002970.2:p.Gly67Ser
XM_005271103.3:c.199G>A	XP_005271160.1:p.Gly67Ser
XM_011541935.1:c.199G>A	XP_011540237.1:p.Gly67Ser
NM_001330587.1:c.199G>A	NP_001317516.1:p.Gly67Ser
XM_005271103.4:c.199G>A	XP_005271160.1:p.Gly67Ser
XM_011541935.2:c.199G>A	XP_011540237.1:p.Gly67Ser
NM_002979.5:c.199G>A MANE Select	NP_002970.2:p.Gly67Ser
NM_001193599.2:c.128-2675G>A	NP_001180528.1:n.128-2675G>A
NM_001193600.2:c.199G>A	NP_001180529.1:p.Gly67Ser
NM_001193617.2:c.-45G>A	NP_001180546.1:n.-45G>A
NM_001007098.3:c.199G>A	NP_001007099.1:p.Gly67Ser
NM_001330587.2:c.199G>A	NP_001317516.1:p.Gly67Ser