Canonical Allele Identifier: CA1828292961

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729541C= , CM000671.2:g.2729541C= GRCh38
NC_000009.11:g.2729541C= , CM000671.1:g.2729541C= GRCh37
NC_000009.10:g.2719541C= NCBI36
NG_012181.1:g.17016C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1452C= (KCNV2) MANE Select ENSP00000371514.3:p.Leu484=
ENST00000382082.3:c.1452C= (KCNV2) ENSP00000371514.3:p.Leu484=
ENST00000490444.2:c.277-9009G= (PUM3) ENSP00000474467.1:n.277-9009G=
NM_133497.3:c.1452C= (KCNV2) NP_598004.1:p.Leu484=
NM_133497.4:c.1452C= (KCNV2) MANE Select NP_598004.1:p.Leu484=