Canonical Allele Identifier: CA862770922
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1273675141
MyVariant Identifiers: chr9:g.2729148_2729149insCAG (hg19) chr9:g.2729148_2729149insCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729151_2729153dup , CM000671.2:g.2729151_2729153dup GRCh38
NC_000009.11:g.2729151_2729153dup , CM000671.1:g.2729151_2729153dup GRCh37
NC_000009.10:g.2719151_2719153dup NCBI36
NG_012181.1:g.16626_16628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-295_1357-293dup (KCNV2) MANE Select ENSP00000371514.3:n.1357-295_1357-293dup
ENST00000382082.3:c.1357-295_1357-293dup (KCNV2) ENSP00000371514.3:n.1357-295_1357-293dup
ENST00000490444.2:c.277-8619_277-8617dup (PUM3) ENSP00000474467.1:n.277-8619_277-8617dup
NM_133497.3:c.1357-295_1357-293dup (KCNV2) NP_598004.1:n.1357-295_1357-293dup
XR_929202.1:n.2002-295_2002-293dup (KCNV2)
XR_929203.1:n.2127_2129dup (KCNV2)
NM_133497.4:c.1357-295_1357-293dup (KCNV2) MANE Select NP_598004.1:n.1357-295_1357-293dup
Search 100 bp 5'
Search 100 bp 3'