Canonical Allele Identifier: CA2689245438
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729432-T-TCC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729433_2729434dup , CM000671.2:g.2729433_2729434dup GRCh38
NC_000009.11:g.2729433_2729434dup , CM000671.1:g.2729433_2729434dup GRCh37
NC_000009.10:g.2719433_2719434dup NCBI36
NG_012181.1:g.16908_16909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-13_1357-12dup (KCNV2) MANE Select ENSP00000371514.3:n.1357-13_1357-12dup
ENST00000382082.3:c.1357-13_1357-12dup (KCNV2) ENSP00000371514.3:n.1357-13_1357-12dup
ENST00000490444.2:c.277-8902_277-8901dup (PUM3) ENSP00000474467.1:n.277-8902_277-8901dup
NM_133497.3:c.1357-13_1357-12dup (KCNV2) NP_598004.1:n.1357-13_1357-12dup
XR_929202.1:n.2002-13_2002-12dup (KCNV2)
NM_133497.4:c.1357-13_1357-12dup (KCNV2) MANE Select NP_598004.1:n.1357-13_1357-12dup
Search 100 bp 5'
Search 100 bp 3'