Canonical Allele Identifier: CA1828293598

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729877C= , CM000671.2:g.2729877C= GRCh38
NC_000009.11:g.2729877C= , CM000671.1:g.2729877C= GRCh37
NC_000009.10:g.2719877C= NCBI36
NG_012181.1:g.17352C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*150C= (KCNV2) MANE Select ENSP00000371514.3:n.*150C=
ENST00000382082.3:c.*150C= (KCNV2) ENSP00000371514.3:n.*150C=
ENST00000490444.2:c.277-9345G= (PUM3) ENSP00000474467.1:n.277-9345G=
NM_133497.3:c.*150C= (KCNV2) NP_598004.1:n.*150C=
NM_133497.4:c.*150C= (KCNV2) MANE Select NP_598004.1:n.*150C=