Canonical Allele Identifier: CA372803896

Linked Data

ClinVar Variation Id: 1500311
ClinVar RCV Id: RCV002015548
dbSNP Id: rs1465469369
gnomAD v2: 9-2729727-G-C
gnomAD v3: 9-2729727-G-C
gnomAD v4: 9-2729727-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729727G>C , CM000671.2:g.2729727G>C GRCh38
NC_000009.11:g.2729727G>C , CM000671.1:g.2729727G>C GRCh37
NC_000009.10:g.2719727G>C NCBI36
NG_012181.1:g.17202G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1638G>C (KCNV2) MANE Select ENSP00000371514.3:p.Ter546Tyr
ENST00000382082.3:c.1638G>C (KCNV2) ENSP00000371514.3:p.Ter546Tyr
ENST00000490444.2:c.277-9195C>G (PUM3) ENSP00000474467.1:n.277-9195C>G
NM_133497.3:c.1638G>C (KCNV2) NP_598004.1:p.Ter546Tyr
NM_133497.4:c.1638G>C (KCNV2) MANE Select NP_598004.1:p.Ter546Tyr