Canonical Allele Identifier: CA1828293623

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729905T= , CM000671.2:g.2729905T= GRCh38
NC_000009.11:g.2729905T= , CM000671.1:g.2729905T= GRCh37
NC_000009.10:g.2719905T= NCBI36
NG_012181.1:g.17380T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*178T= (KCNV2) MANE Select ENSP00000371514.3:n.*178T=
ENST00000382082.3:c.*178T= (KCNV2) ENSP00000371514.3:n.*178T=
ENST00000490444.2:c.277-9373A= (PUM3) ENSP00000474467.1:n.277-9373A=
NM_133497.3:c.*178T= (KCNV2) NP_598004.1:n.*178T=
NM_133497.4:c.*178T= (KCNV2) MANE Select NP_598004.1:n.*178T=