Canonical Allele Identifier: CA409101705
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118529G>T , CM000682.2:g.44118529G>T GRCh38
NC_000020.10:g.42747169G>T , CM000682.1:g.42747169G>T GRCh37
NC_000020.9:g.42180583G>T NCBI36
NG_031867.1:g.74050C>A , LRG_394:g.74050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1264C>A MANE Select ENSP00000362071.3:p.Leu422Met
ENST00000372980.3:c.1264C>A ENSP00000362071.3:p.Leu422Met
NM_020433.4:c.1264C>A , LRG_394t1:c.1264C>A NP_065166.2:p.Leu422Met
XM_006723832.2:c.1264C>A XP_006723895.1:p.Leu422Met
NM_020433.5:c.1264C>A MANE Select NP_065166.2:p.Leu422Met