Canonical Allele Identifier: CA187990746
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1030464340
gnomAD v2: 9-2729899-G-C
gnomAD v3: 9-2729899-G-C
gnomAD v4: 9-2729899-G-C
MyVariant Identifiers: chr9:g.2729899G>C (hg19) chr9:g.2729899G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729899G>C , CM000671.2:g.2729899G>C GRCh38
NC_000009.11:g.2729899G>C , CM000671.1:g.2729899G>C GRCh37
NC_000009.10:g.2719899G>C NCBI36
NG_012181.1:g.17374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*172G>C (KCNV2) MANE Select ENSP00000371514.3:n.*172G>C
ENST00000382082.3:c.*172G>C (KCNV2) ENSP00000371514.3:n.*172G>C
ENST00000490444.2:c.277-9367C>G (PUM3) ENSP00000474467.1:n.277-9367C>G
NM_133497.3:c.*172G>C (KCNV2) NP_598004.1:n.*172G>C
NM_133497.4:c.*172G>C (KCNV2) MANE Select NP_598004.1:n.*172G>C
Search 100 bp 5'
Search 100 bp 3'