Canonical Allele Identifier: CA15224922

Gene: SPAG16

Linked Data

• dbSNP Id: rs9789347
• gnomAD v2: 2-214838513-G-T
• gnomAD v3: 2-213973789-G-T
• gnomAD v4: 2-213973789-G-T
• MyVariant Identifiers: chr2:g.214838513G>T (hg19) ; chr2:g.213973789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.213973789G>T , CM000664.2:g.213973789G>T	GRCh38
NC_000002.11:g.214838513G>T , CM000664.1:g.214838513G>T	GRCh37
NC_000002.10:g.214546758G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331683.10:c.1401-40162G>T MANE Select	ENSP00000332592.5:n.1401-40162G>T
ENST00000331683.9:c.1401-40162G>T	ENSP00000332592.5:n.1401-40162G>T
ENST00000406979.6:c.*1402-40162G>T	ENSP00000385496.2:n.*1402-40162G>T
ENST00000451561.1:c.273-40162G>T	ENSP00000416600.1:n.273-40162G>T
ENST00000452556.5:c.*967-40162G>T	ENSP00000398926.1:n.*967-40162G>T
ENST00000480494.1:n.143-40162G>T
NM_024532.4:c.1401-40162G>T	NP_078808.3:n.1401-40162G>T
NR_047659.1:n.1681-40162G>T
NR_047660.1:n.1387-40162G>T
XM_011511814.1:c.1308-40162G>T	XP_011510116.1:n.1308-40162G>T
XM_011511815.1:c.1401-40162G>T	XP_011510117.1:n.1401-40162G>T
XM_011511816.1:c.1401-40162G>T	XP_011510118.1:n.1401-40162G>T
XM_011511817.1:c.1401-40162G>T	XP_011510119.1:n.1401-40162G>T
XM_011511818.1:c.1401-40162G>T	XP_011510120.1:n.1401-40162G>T
XM_011511819.1:c.1239-40162G>T	XP_011510121.1:n.1239-40162G>T
XM_011511820.1:c.1215-40162G>T	XP_011510122.1:n.1215-40162G>T
XM_011511821.1:c.1119-40162G>T	XP_011510123.1:n.1119-40162G>T
XM_011511822.1:c.1092-40162G>T	XP_011510124.1:n.1092-40162G>T
XM_011511823.1:c.1092-40162G>T	XP_011510125.1:n.1092-40162G>T
XM_011511824.1:c.1401-40162G>T	XP_011510126.1:n.1401-40162G>T
XM_011511825.1:c.1044-40162G>T	XP_011510127.1:n.1044-40162G>T
XM_011511826.1:c.1401-13785G>T	XP_011510128.1:n.1401-13785G>T
XM_011511835.1:c.477-40162G>T	XP_011510137.1:n.477-40162G>T
XM_011511836.1:c.477-40162G>T	XP_011510138.1:n.477-40162G>T
XM_011511815.2:c.1401-40162G>T	XP_011510117.1:n.1401-40162G>T
XM_011511816.3:c.1401-40162G>T	XP_011510118.1:n.1401-40162G>T
XM_011511817.2:c.1401-40162G>T	XP_011510119.1:n.1401-40162G>T
XM_011511818.2:c.1401-40162G>T	XP_011510120.1:n.1401-40162G>T
XM_011511819.2:c.1239-40162G>T	XP_011510121.1:n.1239-40162G>T
XM_011511820.2:c.1215-40162G>T	XP_011510122.1:n.1215-40162G>T
XM_011511821.2:c.1119-40162G>T	XP_011510123.1:n.1119-40162G>T
XM_011511823.3:c.1092-40162G>T	XP_011510125.1:n.1092-40162G>T
XM_011511824.2:c.1401-40162G>T	XP_011510126.1:n.1401-40162G>T
XM_017004896.1:c.1044-40162G>T	XP_016860385.1:n.1044-40162G>T
XM_017004897.1:c.1044-40162G>T	XP_016860386.1:n.1044-40162G>T
XM_017004898.1:c.678-40162G>T	XP_016860387.1:n.678-40162G>T
XM_024453140.1:c.483-40162G>T	XP_024308908.1:n.483-40162G>T
NM_024532.5:c.1401-40162G>T MANE Select	NP_078808.3:n.1401-40162G>T
NR_047659.2:n.1596-40162G>T
NR_047660.2:n.1302-40162G>T