Canonical Allele Identifier: CA187990292
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs982984389
MyVariant Identifiers: chr9:g.2729652G>A (hg19) chr9:g.2729652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729652G>A , CM000671.2:g.2729652G>A GRCh38
NC_000009.11:g.2729652G>A , CM000671.1:g.2729652G>A GRCh37
NC_000009.10:g.2719652G>A NCBI36
NG_012181.1:g.17127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1563G>A (KCNV2) MANE Select ENSP00000371514.3:p.Met521Ile
ENST00000382082.3:c.1563G>A (KCNV2) ENSP00000371514.3:p.Met521Ile
ENST00000490444.2:c.277-9120C>T (PUM3) ENSP00000474467.1:n.277-9120C>T
NM_133497.3:c.1563G>A (KCNV2) NP_598004.1:p.Met521Ile
NM_133497.4:c.1563G>A (KCNV2) MANE Select NP_598004.1:p.Met521Ile
Search 100 bp 5'
Search 100 bp 3'