Canonical Allele Identifier: CA409101702
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118528-A-C
MyVariant Identifiers: chr20:g.42747168A>C (hg19) chr20:g.44118528A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118528A>C , CM000682.2:g.44118528A>C GRCh38
NC_000020.10:g.42747168A>C , CM000682.1:g.42747168A>C GRCh37
NC_000020.9:g.42180582A>C NCBI36
NG_031867.1:g.74051T>G , LRG_394:g.74051T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1265T>G MANE Select ENSP00000362071.3:p.Leu422Arg
ENST00000372980.3:c.1265T>G ENSP00000362071.3:p.Leu422Arg
NM_020433.4:c.1265T>G , LRG_394t1:c.1265T>G NP_065166.2:p.Leu422Arg
XM_006723832.2:c.1265T>G XP_006723895.1:p.Leu422Arg
NM_020433.5:c.1265T>G MANE Select NP_065166.2:p.Leu422Arg
Search 100 bp 5'
Search 100 bp 3'