Canonical Allele Identifier: CA1828293588

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729873T= , CM000671.2:g.2729873T= GRCh38
NC_000009.11:g.2729873T= , CM000671.1:g.2729873T= GRCh37
NC_000009.10:g.2719873T= NCBI36
NG_012181.1:g.17348T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*146T= (KCNV2) MANE Select ENSP00000371514.3:n.*146T=
ENST00000382082.3:c.*146T= (KCNV2) ENSP00000371514.3:n.*146T=
ENST00000490444.2:c.277-9341A= (PUM3) ENSP00000474467.1:n.277-9341A=
NM_133497.3:c.*146T= (KCNV2) NP_598004.1:n.*146T=
NM_133497.4:c.*146T= (KCNV2) MANE Select NP_598004.1:n.*146T=