Canonical Allele Identifier: CA744698888
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1286658988
gnomAD v3: 20-44118680-C-T
gnomAD v4: 20-44118680-C-T
MyVariant Identifiers: chr20:g.42747320C>T (hg19) chr20:g.44118680C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118680C>T , CM000682.2:g.44118680C>T GRCh38
NC_000020.10:g.42747320C>T , CM000682.1:g.42747320C>T GRCh37
NC_000020.9:g.42180734C>T NCBI36
NG_031867.1:g.73899G>A , LRG_394:g.73899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1170-57G>A MANE Select ENSP00000362071.3:n.1170-57G>A
ENST00000372980.3:c.1170-57G>A ENSP00000362071.3:n.1170-57G>A
NM_020433.4:c.1170-57G>A , LRG_394t1:c.1170-57G>A NP_065166.2:n.1170-57G>A
XM_006723832.2:c.1170-57G>A XP_006723895.1:n.1170-57G>A
NM_020433.5:c.1170-57G>A MANE Select NP_065166.2:n.1170-57G>A
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