Canonical Allele Identifier: CA2365626471
Gene: JPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118579G= , CM000682.2:g.44118579G= GRCh38
NC_000020.10:g.42747219G= , CM000682.1:g.42747219G= GRCh37
NC_000020.9:g.42180633G= NCBI36
NG_031867.1:g.74000C= , LRG_394:g.74000C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1214C= MANE Select ENSP00000362071.3:p.Ala405=
ENST00000372980.3:c.1214C= ENSP00000362071.3:p.Ala405=
NM_020433.4:c.1214C= , LRG_394t1:c.1214C= NP_065166.2:p.Ala405=
XM_006723832.2:c.1214C= XP_006723895.1:p.Ala405=
NM_020433.5:c.1214C= MANE Select NP_065166.2:p.Ala405=
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