Canonical Allele Identifier: CA4965952

Linked Data

ClinVar Variation Id: 834167
dbSNP Id: rs757778905
gnomAD v2: 9-2729698-C-T
gnomAD v3: 9-2729698-C-T
gnomAD v4: 9-2729698-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729698C>T , CM000671.2:g.2729698C>T GRCh38
NC_000009.11:g.2729698C>T , CM000671.1:g.2729698C>T GRCh37
NC_000009.10:g.2719698C>T NCBI36
NG_012181.1:g.17173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1609C>T (KCNV2) MANE Select ENSP00000371514.3:p.Pro537Ser
ENST00000382082.3:c.1609C>T (KCNV2) ENSP00000371514.3:p.Pro537Ser
ENST00000490444.2:c.277-9166G>A (PUM3) ENSP00000474467.1:n.277-9166G>A
NM_133497.3:c.1609C>T (KCNV2) NP_598004.1:p.Pro537Ser
NM_133497.4:c.1609C>T (KCNV2) MANE Select NP_598004.1:p.Pro537Ser