Canonical Allele Identifier: CA372803792

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729678A>T , CM000671.2:g.2729678A>T GRCh38
NC_000009.11:g.2729678A>T , CM000671.1:g.2729678A>T GRCh37
NC_000009.10:g.2719678A>T NCBI36
NG_012181.1:g.17153A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1589A>T (KCNV2) MANE Select ENSP00000371514.3:p.Glu530Val
ENST00000382082.3:c.1589A>T (KCNV2) ENSP00000371514.3:p.Glu530Val
ENST00000490444.2:c.277-9146T>A (PUM3) ENSP00000474467.1:n.277-9146T>A
NM_133497.3:c.1589A>T (KCNV2) NP_598004.1:p.Glu530Val
NM_133497.4:c.1589A>T (KCNV2) MANE Select NP_598004.1:p.Glu530Val