Canonical Allele Identifier: CA372803777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729671A>C , CM000671.2:g.2729671A>C GRCh38
NC_000009.11:g.2729671A>C , CM000671.1:g.2729671A>C GRCh37
NC_000009.10:g.2719671A>C NCBI36
NG_012181.1:g.17146A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1582A>C (KCNV2) MANE Select ENSP00000371514.3:p.Ile528Leu
ENST00000382082.3:c.1582A>C (KCNV2) ENSP00000371514.3:p.Ile528Leu
ENST00000490444.2:c.277-9139T>G (PUM3) ENSP00000474467.1:n.277-9139T>G
NM_133497.3:c.1582A>C (KCNV2) NP_598004.1:p.Ile528Leu
NM_133497.4:c.1582A>C (KCNV2) MANE Select NP_598004.1:p.Ile528Leu