Canonical Allele Identifier: CA372803710
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1410901
ClinVar RCV Id: RCV001920344
dbSNP Id: rs2130869457
gnomAD v4: 9-2729641-G-T
MyVariant Identifiers: chr9:g.2729641G>T (hg19) chr9:g.2729641G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729641G>T , CM000671.2:g.2729641G>T GRCh38
NC_000009.11:g.2729641G>T , CM000671.1:g.2729641G>T GRCh37
NC_000009.10:g.2719641G>T NCBI36
NG_012181.1:g.17116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1552G>T (KCNV2) MANE Select ENSP00000371514.3:p.Val518Leu
ENST00000382082.3:c.1552G>T (KCNV2) ENSP00000371514.3:p.Val518Leu
ENST00000490444.2:c.277-9109C>A (PUM3) ENSP00000474467.1:n.277-9109C>A
NM_133497.3:c.1552G>T (KCNV2) NP_598004.1:p.Val518Leu
NM_133497.4:c.1552G>T (KCNV2) MANE Select NP_598004.1:p.Val518Leu
Search 100 bp 5'
Search 100 bp 3'