Canonical Allele Identifier: CA1828293641

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729916T= , CM000671.2:g.2729916T= GRCh38
NC_000009.11:g.2729916T= , CM000671.1:g.2729916T= GRCh37
NC_000009.10:g.2719916T= NCBI36
NG_012181.1:g.17391T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*189T= (KCNV2) MANE Select ENSP00000371514.3:n.*189T=
ENST00000382082.3:c.*189T= (KCNV2) ENSP00000371514.3:n.*189T=
ENST00000490444.2:c.277-9384A= (PUM3) ENSP00000474467.1:n.277-9384A=
NM_133497.3:c.*189T= (KCNV2) NP_598004.1:n.*189T=
NM_133497.4:c.*189T= (KCNV2) MANE Select NP_598004.1:n.*189T=