Canonical Allele Identifier: CA409094418
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44160368-C-T
MyVariant Identifiers: chr20:g.42789008C>T (hg19) chr20:g.44160368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160368C>T , CM000682.2:g.44160368C>T GRCh38
NC_000020.10:g.42789008C>T , CM000682.1:g.42789008C>T GRCh37
NC_000020.9:g.42222422C>T NCBI36
NG_031867.1:g.32211G>A , LRG_394:g.32211G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.419G>A MANE Select ENSP00000362071.3:p.Gly140Asp
ENST00000372980.3:c.419G>A ENSP00000362071.3:p.Gly140Asp
NM_020433.4:c.419G>A , LRG_394t1:c.419G>A NP_065166.2:p.Gly140Asp
XM_006723832.2:c.419G>A XP_006723895.1:p.Gly140Asp
NM_020433.5:c.419G>A MANE Select NP_065166.2:p.Gly140Asp
Search 100 bp 5'
Search 100 bp 3'