Canonical Allele Identifier: CA372803893
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421350
ClinVar RCV Id: RCV001943775
dbSNP Id: rs2130869560
gnomAD v4: 9-2729726-A-C
MyVariant Identifiers: chr9:g.2729726A>C (hg19) chr9:g.2729726A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729726A>C , CM000671.2:g.2729726A>C GRCh38
NC_000009.11:g.2729726A>C , CM000671.1:g.2729726A>C GRCh37
NC_000009.10:g.2719726A>C NCBI36
NG_012181.1:g.17201A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1637A>C (KCNV2) MANE Select ENSP00000371514.3:p.Ter546Ser
ENST00000382082.3:c.1637A>C (KCNV2) ENSP00000371514.3:p.Ter546Ser
ENST00000490444.2:c.277-9194T>G (PUM3) ENSP00000474467.1:n.277-9194T>G
NM_133497.3:c.1637A>C (KCNV2) NP_598004.1:p.Ter546Ser
NM_133497.4:c.1637A>C (KCNV2) MANE Select NP_598004.1:p.Ter546Ser
Search 100 bp 5'
Search 100 bp 3'