Canonical Allele Identifier: CA1828292982

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729548A= , CM000671.2:g.2729548A= GRCh38
NC_000009.11:g.2729548A= , CM000671.1:g.2729548A= GRCh37
NC_000009.10:g.2719548A= NCBI36
NG_012181.1:g.17023A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1459A= (KCNV2) MANE Select ENSP00000371514.3:p.Met487=
ENST00000382082.3:c.1459A= (KCNV2) ENSP00000371514.3:p.Met487=
ENST00000490444.2:c.277-9016T= (PUM3) ENSP00000474467.1:n.277-9016T=
NM_133497.3:c.1459A= (KCNV2) NP_598004.1:p.Met487=
NM_133497.4:c.1459A= (KCNV2) MANE Select NP_598004.1:p.Met487=