Canonical Allele Identifier: CA586168525
Gene: KCNV2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943175
ClinVar RCV Id: RCV001213312
dbSNP Id: rs1385132304

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717758_2717759del , CM000671.2:g.2717758_2717759del GRCh38
NC_000009.11:g.2717758_2717759del , CM000671.1:g.2717758_2717759del GRCh37
NC_000009.10:g.2707758_2707759del NCBI36
NG_012181.1:g.5233_5234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.19_20del MANE Select ENSP00000371514.3:p.Arg7GlufsTer15
ENST00000382082.3:c.19_20del ENSP00000371514.3:p.Arg7GlufsTer15
NM_133497.3:c.19_20del NP_598004.1:p.Arg7GlufsTer15
XR_929202.1:n.520_521del
XR_929203.1:n.520_521del
NM_133497.4:c.19_20del MANE Select NP_598004.1:p.Arg7GlufsTer15