All transcript variants in gene CNTN2

Information The variants shown are described using the NM_005076.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.487+10G>A likely benign r.(=) p.(=) g.205027801G>A - CNTN2(NM_005076.4):c.487+10G>A - CNTN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.505C>T VUS r.(?) p.(Leu169Phe) g.205028229C>T - CNTN2(NM_005076.4):c.505C>T (p.L169F) - CNTN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1372A>G VUS r.(?) p.(Ile458Val) g.205033581A>G - - - CNTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1975A>G likely benign r.(?) p.(Asn659Asp) g.205035727A>G - CNTN2(NM_005076.3):c.1975A>G (p.(Asn659Asp)) - CNTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend