Canonical Allele Identifier: CA1828292309
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729061C= , CM000671.2:g.2729061C= GRCh38
NC_000009.11:g.2729061C= , CM000671.1:g.2729061C= GRCh37
NC_000009.10:g.2719061C= NCBI36
NG_012181.1:g.16536C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-385C= (KCNV2) MANE Select ENSP00000371514.3:n.1357-385C=
ENST00000382082.3:c.1357-385C= (KCNV2) ENSP00000371514.3:n.1357-385C=
ENST00000490444.2:c.277-8529G= (PUM3) ENSP00000474467.1:n.277-8529G=
NM_133497.3:c.1357-385C= (KCNV2) NP_598004.1:n.1357-385C=
XR_929202.1:n.2002-385C= (KCNV2)
XR_929203.1:n.2037C= (KCNV2)
NM_133497.4:c.1357-385C= (KCNV2) MANE Select NP_598004.1:n.1357-385C=
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