Canonical Allele Identifier: CA1828292311

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729062T= , CM000671.2:g.2729062T= GRCh38
NC_000009.11:g.2729062T= , CM000671.1:g.2729062T= GRCh37
NC_000009.10:g.2719062T= NCBI36
NG_012181.1:g.16537T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-384T= (KCNV2) MANE Select ENSP00000371514.3:n.1357-384T=
ENST00000382082.3:c.1357-384T= (KCNV2) ENSP00000371514.3:n.1357-384T=
ENST00000490444.2:c.277-8530A= (PUM3) ENSP00000474467.1:n.277-8530A=
NM_133497.3:c.1357-384T= (KCNV2) NP_598004.1:n.1357-384T=
XR_929202.1:n.2002-384T= (KCNV2)
XR_929203.1:n.2038T= (KCNV2)
NM_133497.4:c.1357-384T= (KCNV2) MANE Select NP_598004.1:n.1357-384T=