Canonical Allele Identifier: CA115920

Linked Data

ClinVar Variation Id: 3012
ClinVar RCV Id: RCV000003148
dbSNP Id: rs104894115
gnomAD v4: 9-2729465-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729465G>A , CM000671.2:g.2729465G>A GRCh38
NC_000009.11:g.2729465G>A , CM000671.1:g.2729465G>A GRCh37
NC_000009.10:g.2719465G>A NCBI36
NG_012181.1:g.16940G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.1376G>A (KCNV2) MANE Select ENSP00000371514.3:p.Gly459Asp
ENST00000382082.3:c.1376G>A (KCNV2) ENSP00000371514.3:p.Gly459Asp
ENST00000490444.2:c.277-8933C>T (PUM3) ENSP00000474467.1:n.277-8933C>T
NM_133497.3:c.1376G>A (KCNV2) NP_598004.1:p.Gly459Asp
XR_929202.1:n.2021G>A (KCNV2)
NM_133497.4:c.1376G>A (KCNV2) MANE Select NP_598004.1:p.Gly459Asp