Canonical Allele Identifier: CA657639347
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118640del , CM000682.2:g.44118640del GRCh38
NC_000020.10:g.42747280del , CM000682.1:g.42747280del GRCh37
NC_000020.9:g.42180694del NCBI36
NG_031867.1:g.73940del , LRG_394:g.73940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1170-16del MANE Select ENSP00000362071.3:n.1170-16del
ENST00000372980.3:c.1170-16del ENSP00000362071.3:n.1170-16del
NM_020433.4:c.1170-16del , LRG_394t1:c.1170-16del NP_065166.2:n.1170-16del
XM_006723832.2:c.1170-16del XP_006723895.1:n.1170-16del
NM_020433.5:c.1170-16del MANE Select NP_065166.2:n.1170-16del