Canonical Allele Identifier: CA209687

Gene: SRPX2

Linked Data

• ClinVar Variation Id: 139323
• ClinVar RCV Id: RCV000195094 ; RCV000424626 ; RCV001085267
• dbSNP Id: rs73636611
• ExAC: X:99919875 C / G
• gnomAD v2: X-99919875-C-G
• gnomAD v3: X-100664878-C-G
• gnomAD v4: X-100664878-C-G
• MyVariant Identifiers: chrX:g.99919875C>G (hg19) ; chrX:g.100664878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100664878C>G , CM000685.2:g.100664878C>G	GRCh38
NC_000023.10:g.99919875C>G , CM000685.1:g.99919875C>G	GRCh37
NC_000023.9:g.99806531C>G	NCBI36
NG_021337.1:g.25713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373004.5:c.460C>G MANE Select	ENSP00000362095.3:p.His154Asp
ENST00000638319.1:n.448C>G
ENST00000638458.1:c.484C>G	ENSP00000492168.1:p.His162Asp
ENST00000638920.1:n.463C>G
ENST00000640889.1:c.460C>G	ENSP00000492571.1:p.His154Asp
ENST00000677630.1:n.394C>G
ENST00000679590.1:n.493C>G
ENST00000373004.3:c.460C>G	ENSP00000362095.3:p.His154Asp
NM_014467.2:c.460C>G	NP_055282.1:p.His154Asp
XM_005262121.2:c.460C>G	XP_005262178.1:p.His154Asp
NM_014467.3:c.460C>G MANE Select	NP_055282.1:p.His154Asp