Canonical Allele Identifier: CA10534795

Gene: SPANXN2

Linked Data

• ClinVar Variation Id: 2212505
• ClinVar RCV Id: RCV004082056
• dbSNP Id: rs138428708
• ExAC: X:142795496 G / A
• gnomAD v2: X-142795496-G-A
• gnomAD v3: X-143712396-G-A
• gnomAD v4: X-143712396-G-A
• MyVariant Identifiers: chrX:g.142795496G>A (hg19) ; chrX:g.143712396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.143712396G>A , CM000685.2:g.143712396G>A	GRCh38
NC_000023.10:g.142795496G>A , CM000685.1:g.142795496G>A	GRCh37
NC_000023.9:g.142623162G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598475.2:c.182C>T MANE Select	ENSP00000470584.1:p.Thr61Met
ENST00000598475.1:c.182C>T	ENSP00000470584.1:p.Thr61Met
NM_001009615.2:c.182C>T	NP_001009615.1:p.Thr61Met
NM_001009615.3:c.182C>T MANE Select	NP_001009615.1:p.Thr61Met