Canonical Allele Identifier: CA372803370

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729485G>T , CM000671.2:g.2729485G>T GRCh38
NC_000009.11:g.2729485G>T , CM000671.1:g.2729485G>T GRCh37
NC_000009.10:g.2719485G>T NCBI36
NG_012181.1:g.16960G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1396G>T (KCNV2) MANE Select ENSP00000371514.3:p.Glu466Ter
ENST00000382082.3:c.1396G>T (KCNV2) ENSP00000371514.3:p.Glu466Ter
ENST00000490444.2:c.277-8953C>A (PUM3) ENSP00000474467.1:n.277-8953C>A
NM_133497.3:c.1396G>T (KCNV2) NP_598004.1:p.Glu466Ter
XR_929202.1:n.2041G>T (KCNV2)
NM_133497.4:c.1396G>T (KCNV2) MANE Select NP_598004.1:p.Glu466Ter