Canonical Allele Identifier: CA10534727

Gene: SPANXN2

Linked Data

• ClinVar Variation Id: 2329609
• ClinVar RCV Id: RCV004172266
• dbSNP Id: rs782476044
• ExAC: X:142795224 C / T
• gnomAD v2: X-142795224-C-T
• gnomAD v4: X-143712124-C-T
• MyVariant Identifiers: chrX:g.142795224C>T (hg19) ; chrX:g.142795224_142795235delinsTGTCCTCCTGTG (hg19) ; chrX:g.142795224_142795238delinsTGTCCTCCTGTGAAG (hg19) ; chrX:g.143712124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.143712124C>T , CM000685.2:g.143712124C>T	GRCh38
NC_000023.10:g.142795224C>T , CM000685.1:g.142795224C>T	GRCh37
NC_000023.9:g.142622890C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598475.2:c.454G>A MANE Select	ENSP00000470584.1:p.Glu152Lys
ENST00000598475.1:c.454G>A	ENSP00000470584.1:p.Glu152Lys
NM_001009615.2:c.454G>A	NP_001009615.1:p.Glu152Lys
NM_001009615.3:c.454G>A MANE Select	NP_001009615.1:p.Glu152Lys