Canonical Allele Identifier: CA1828293244
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1820034523
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729677_2729678insTAGTAATC , CM000671.2:g.2729677_2729678insTAGTAATC GRCh38
NC_000009.11:g.2729677_2729678insTAGTAATC , CM000671.1:g.2729677_2729678insTAGTAATC GRCh37
NC_000009.10:g.2719677_2719678insTAGTAATC NCBI36
NG_012181.1:g.17152_17153insTAGTAATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1588_1589insTAGTAATC (KCNV2) MANE Select ENSP00000371514.3:p.Glu530ValfsTer23
ENST00000382082.3:c.1588_1589insTAGTAATC (KCNV2) ENSP00000371514.3:p.Glu530ValfsTer23
ENST00000490444.2:c.277-9146_277-9145insGATTACTA (PUM3) ENSP00000474467.1:n.277-9146_277-9145insGATTACTA
NM_133497.3:c.1588_1589insTAGTAATC (KCNV2) NP_598004.1:p.Glu530ValfsTer23
NM_133497.4:c.1588_1589insTAGTAATC (KCNV2) MANE Select NP_598004.1:p.Glu530ValfsTer23
Search 100 bp 5'
Search 100 bp 3'