Canonical Allele Identifier: CA187989579
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs201461471
MyVariant Identifiers: chr9:g.2729056_2729057insAGA (hg19) chr9:g.2729056_2729057insAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729056_2729057insAGA , CM000671.2:g.2729056_2729057insAGA GRCh38
NC_000009.11:g.2729056_2729057insAGA , CM000671.1:g.2729056_2729057insAGA GRCh37
NC_000009.10:g.2719056_2719057insAGA NCBI36
NG_012181.1:g.16531_16532insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-390_1357-389insAGA (KCNV2) MANE Select ENSP00000371514.3:n.1357-390_1357-389insAGA
ENST00000382082.3:c.1357-390_1357-389insAGA (KCNV2) ENSP00000371514.3:n.1357-390_1357-389insAGA
ENST00000490444.2:c.277-8525_277-8524insTCT (PUM3) ENSP00000474467.1:n.277-8525_277-8524insTCT
NM_133497.3:c.1357-390_1357-389insAGA (KCNV2) NP_598004.1:n.1357-390_1357-389insAGA
XR_929202.1:n.2002-390_2002-389insAGA (KCNV2)
XR_929203.1:n.2032_2033insAGA (KCNV2)
NM_133497.4:c.1357-390_1357-389insAGA (KCNV2) MANE Select NP_598004.1:n.1357-390_1357-389insAGA
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