Canonical Allele Identifier: CA409101888
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118617-G-T
MyVariant Identifiers: chr20:g.42747257G>T (hg19) chr20:g.44118617G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118617G>T , CM000682.2:g.44118617G>T GRCh38
NC_000020.10:g.42747257G>T , CM000682.1:g.42747257G>T GRCh37
NC_000020.9:g.42180671G>T NCBI36
NG_031867.1:g.73962C>A , LRG_394:g.73962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1176C>A MANE Select ENSP00000362071.3:p.Ser392Arg
ENST00000372980.3:c.1176C>A ENSP00000362071.3:p.Ser392Arg
NM_020433.4:c.1176C>A , LRG_394t1:c.1176C>A NP_065166.2:p.Ser392Arg
XM_006723832.2:c.1176C>A XP_006723895.1:p.Ser392Arg
NM_020433.5:c.1176C>A MANE Select NP_065166.2:p.Ser392Arg
Search 100 bp 5'
Search 100 bp 3'