All transcript variants in gene INTS2

Information The variants shown are described using the NM_020748.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.967A>G likely benign r.(?) p.(Asn323Asp) g.59988892T>C - INTS2:NM_020748.2:c.967A>G - INTS2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3605G>A likely benign r.(?) p.(Ser1202Asn) g.59944928C>T - BRIP1:NM_020748.2:c.3605G>A, NM_032043.2:c.-4314G>A - INTS2_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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