Canonical Allele Identifier: CA9868900
Gene: JPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.44186429G>A
GRCh37 chr20:g.42815069G>A
Revel Score:
ENST00000372980 (MANE Select) 0.478
ENST00000342272 0.478
gnomAD v2:
20:42815069 G / A
gnomAD v4:
chr20-44186429-G-A
Joint Max Group AF 0.00001425 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44186429G>A , CM000682.2:g.44186429G>A GRCh38
NC_000020.10:g.42815069G>A , CM000682.1:g.42815069G>A GRCh37
NC_000020.9:g.42248483G>A NCBI36
NG_031867.1:g.6150C>T , LRG_394:g.6150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.277C>T MANE Select ENSP00000362071.3:p.Arg93Cys
ENST00000342272.3:c.277C>T ENSP00000344590.3:p.Arg93Cys
ENST00000372980.3:c.277C>T ENSP00000362071.3:p.Arg93Cys
NM_020433.4:c.277C>T , LRG_394t1:c.277C>T NP_065166.2:p.Arg93Cys
NM_175913.3:c.277C>T NP_787109.2:p.Arg93Cys
XM_006723832.2:c.277C>T XP_006723895.1:p.Arg93Cys
XM_006723833.2:c.277C>T XP_006723896.1:p.Arg93Cys
XM_006723833.4:c.277C>T XP_006723896.1:p.Arg93Cys
NM_020433.5:c.277C>T MANE Select NP_065166.2:p.Arg93Cys
NM_175913.4:c.277C>T NP_787109.2:p.Arg93Cys
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