Canonical Allele Identifier: CA409093744
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs749739988
gnomAD v2: 20-42788674-G-T
gnomAD v4: 20-44160034-G-T
MyVariant Identifiers: chr20:g.42788674G>T (hg19) chr20:g.44160034G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160034G>T , CM000682.2:g.44160034G>T GRCh38
NC_000020.10:g.42788674G>T , CM000682.1:g.42788674G>T GRCh37
NC_000020.9:g.42222088G>T NCBI36
NG_031867.1:g.32545C>A , LRG_394:g.32545C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.753C>A MANE Select ENSP00000362071.3:p.Ser251Arg
ENST00000372980.3:c.753C>A ENSP00000362071.3:p.Ser251Arg
NM_020433.4:c.753C>A , LRG_394t1:c.753C>A NP_065166.2:p.Ser251Arg
XM_006723832.2:c.753C>A XP_006723895.1:p.Ser251Arg
NM_020433.5:c.753C>A MANE Select NP_065166.2:p.Ser251Arg
Search 100 bp 5'
Search 100 bp 3'