Canonical Allele Identifier: CA187990648
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1004377553
gnomAD v3: 9-2729847-C-T
gnomAD v4: 9-2729847-C-T
MyVariant Identifiers: chr9:g.2729847C>T (hg19) chr9:g.2729847C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729847C>T , CM000671.2:g.2729847C>T GRCh38
NC_000009.11:g.2729847C>T , CM000671.1:g.2729847C>T GRCh37
NC_000009.10:g.2719847C>T NCBI36
NG_012181.1:g.17322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*120C>T (KCNV2) MANE Select ENSP00000371514.3:n.*120C>T
ENST00000382082.3:c.*120C>T (KCNV2) ENSP00000371514.3:n.*120C>T
ENST00000490444.2:c.277-9315G>A (PUM3) ENSP00000474467.1:n.277-9315G>A
NM_133497.3:c.*120C>T (KCNV2) NP_598004.1:n.*120C>T
NM_133497.4:c.*120C>T (KCNV2) MANE Select NP_598004.1:n.*120C>T
Search 100 bp 5'
Search 100 bp 3'