Canonical Allele Identifier: CA2365626408
Gene: JPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118451G= , CM000682.2:g.44118451G= GRCh38
NC_000020.10:g.42747091G= , CM000682.1:g.42747091G= GRCh37
NC_000020.9:g.42180505G= NCBI36
NG_031867.1:g.74128C= , LRG_394:g.74128C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1288+54C= MANE Select ENSP00000362071.3:n.1288+54C=
ENST00000372980.3:c.1288+54C= ENSP00000362071.3:n.1288+54C=
NM_020433.4:c.1288+54C= , LRG_394t1:c.1288+54C= NP_065166.2:n.1288+54C=
XM_006723832.2:c.1288+54C= XP_006723895.1:n.1288+54C=
NM_020433.5:c.1288+54C= MANE Select NP_065166.2:n.1288+54C=
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