Canonical Allele Identifier: CA2579290275
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729392-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729392T>C , CM000671.2:g.2729392T>C GRCh38
NC_000009.11:g.2729392T>C , CM000671.1:g.2729392T>C GRCh37
NC_000009.10:g.2719392T>C NCBI36
NG_012181.1:g.16867T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.1357-54T>C (KCNV2) MANE Select ENSP00000371514.3:n.1357-54T>C
ENST00000382082.3:c.1357-54T>C (KCNV2) ENSP00000371514.3:n.1357-54T>C
ENST00000490444.2:c.277-8860A>G (PUM3) ENSP00000474467.1:n.277-8860A>G
NM_133497.3:c.1357-54T>C (KCNV2) NP_598004.1:n.1357-54T>C
XR_929202.1:n.2002-54T>C (KCNV2)
XR_929203.1:n.2368T>C (KCNV2)
NM_133497.4:c.1357-54T>C (KCNV2) MANE Select NP_598004.1:n.1357-54T>C
Search 100 bp 5'
Search 100 bp 3'