Canonical Allele Identifier: CA636173697
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1238462367
gnomAD v2: 20-42789060-A-T
gnomAD v4: 20-44160420-A-T
MyVariant Identifiers: chr20:g.42789060A>T (hg19) chr20:g.44160420A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160420A>T , CM000682.2:g.44160420A>T GRCh38
NC_000020.10:g.42789060A>T , CM000682.1:g.42789060A>T GRCh37
NC_000020.9:g.42222474A>T NCBI36
NG_031867.1:g.32159T>A , LRG_394:g.32159T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.380-13T>A MANE Select ENSP00000362071.3:n.380-13T>A
ENST00000372980.3:c.380-13T>A ENSP00000362071.3:n.380-13T>A
NM_020433.4:c.380-13T>A , LRG_394t1:c.380-13T>A NP_065166.2:n.380-13T>A
XM_006723832.2:c.380-13T>A XP_006723895.1:n.380-13T>A
NM_020433.5:c.380-13T>A MANE Select NP_065166.2:n.380-13T>A
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