Canonical Allele Identifier: CA9868823
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs771511471
ExAC: 20:42788677 C / T
gnomAD v2: 20-42788677-C-T
gnomAD v4: 20-44160037-C-T
MyVariant Identifiers: chr20:g.42788677C>T (hg19) chr20:g.44160037C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160037C>T , CM000682.2:g.44160037C>T GRCh38
NC_000020.10:g.42788677C>T , CM000682.1:g.42788677C>T GRCh37
NC_000020.9:g.42222091C>T NCBI36
NG_031867.1:g.32542G>A , LRG_394:g.32542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.750G>A MANE Select ENSP00000362071.3:p.Lys250=
ENST00000372980.3:c.750G>A ENSP00000362071.3:p.Lys250=
NM_020433.4:c.750G>A , LRG_394t1:c.750G>A NP_065166.2:p.Lys250=
XM_006723832.2:c.750G>A XP_006723895.1:p.Lys250=
NM_020433.5:c.750G>A MANE Select NP_065166.2:p.Lys250=
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