Canonical Allele Identifier: CA1828292747
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729448G= , CM000671.2:g.2729448G= GRCh38
NC_000009.11:g.2729448G= , CM000671.1:g.2729448G= GRCh37
NC_000009.10:g.2719448G= NCBI36
NG_012181.1:g.16923G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1359G= (KCNV2) MANE Select ENSP00000371514.3:p.Val453=
ENST00000382082.3:c.1359G= (KCNV2) ENSP00000371514.3:p.Val453=
ENST00000490444.2:c.277-8916C= (PUM3) ENSP00000474467.1:n.277-8916C=
NM_133497.3:c.1359G= (KCNV2) NP_598004.1:p.Val453=
XR_929202.1:n.2004G= (KCNV2)
NM_133497.4:c.1359G= (KCNV2) MANE Select NP_598004.1:p.Val453=
Search 100 bp 5'
Search 100 bp 3'