Canonical Allele Identifier: CA314643213
Gene: JPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.44118433T>A
GRCh37 chr20:g.42747073T>A
gnomAD v3:
20:44118433 T / A
gnomAD v4:
chr20-44118433-T-A
Joint Max Group AF 0.00003255 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.000018 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118433T>A , CM000682.2:g.44118433T>A GRCh38
NC_000020.10:g.42747073T>A , CM000682.1:g.42747073T>A GRCh37
NC_000020.9:g.42180487T>A NCBI36
NG_031867.1:g.74146A>T , LRG_394:g.74146A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1288+72A>T MANE Select ENSP00000362071.3:n.1288+72A>T
ENST00000372980.3:c.1288+72A>T ENSP00000362071.3:n.1288+72A>T
NM_020433.4:c.1288+72A>T , LRG_394t1:c.1288+72A>T NP_065166.2:n.1288+72A>T
XM_006723832.2:c.1288+72A>T XP_006723895.1:n.1288+72A>T
NM_020433.5:c.1288+72A>T MANE Select NP_065166.2:n.1288+72A>T
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