Canonical Allele Identifier: CA585930535
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1193648041
gnomAD v2: 9-2729385-C-G
MyVariant Identifiers: chr9:g.2729385_2729389delinsGCTTT (hg19) chr9:g.2729385_2729389delinsGCTTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729385C>G , CM000671.2:g.2729385C>G GRCh38
NC_000009.11:g.2729385C>G , CM000671.1:g.2729385C>G GRCh37
NC_000009.10:g.2719385C>G NCBI36
NG_012181.1:g.16860C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.1357-61C>G (KCNV2) MANE Select ENSP00000371514.3:n.1357-61C>G
ENST00000382082.3:c.1357-61C>G (KCNV2) ENSP00000371514.3:n.1357-61C>G
ENST00000490444.2:c.277-8853G>C (PUM3) ENSP00000474467.1:n.277-8853G>C
NM_133497.3:c.1357-61C>G (KCNV2) NP_598004.1:n.1357-61C>G
XR_929202.1:n.2002-61C>G (KCNV2)
XR_929203.1:n.2361C>G (KCNV2)
NM_133497.4:c.1357-61C>G (KCNV2) MANE Select NP_598004.1:n.1357-61C>G
Search 100 bp 5'
Search 100 bp 3'