Canonical Allele Identifier: CA4965949
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs775906751
ExAC: 9:2729690 G / GA
gnomAD v4: 9-2729690-G-GA
MyVariant Identifiers: chr9:g.2729690_2729691insA (hg19) chr9:g.2729690_2729691insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729692dup , CM000671.2:g.2729692dup GRCh38
NC_000009.11:g.2729692dup , CM000671.1:g.2729692dup GRCh37
NC_000009.10:g.2719692dup NCBI36
NG_012181.1:g.17167dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1603dup (KCNV2) MANE Select ENSP00000371514.3:p.Ser535LysfsTer21
ENST00000382082.3:c.1603dup (KCNV2) ENSP00000371514.3:p.Ser535LysfsTer21
ENST00000490444.2:c.277-9159dup (PUM3) ENSP00000474467.1:n.277-9159dup
NM_133497.3:c.1603dup (KCNV2) NP_598004.1:p.Ser535LysfsTer21
NM_133497.4:c.1603dup (KCNV2) MANE Select NP_598004.1:p.Ser535LysfsTer21
Search 100 bp 5'
Search 100 bp 3'