Canonical Allele Identifier: CA409101880
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118614-G-T
MyVariant Identifiers: chr20:g.42747254G>T (hg19) chr20:g.44118614G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118614G>T , CM000682.2:g.44118614G>T GRCh38
NC_000020.10:g.42747254G>T , CM000682.1:g.42747254G>T GRCh37
NC_000020.9:g.42180668G>T NCBI36
NG_031867.1:g.73965C>A , LRG_394:g.73965C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1179C>A MANE Select ENSP00000362071.3:p.His393Gln
ENST00000372980.3:c.1179C>A ENSP00000362071.3:p.His393Gln
NM_020433.4:c.1179C>A , LRG_394t1:c.1179C>A NP_065166.2:p.His393Gln
XM_006723832.2:c.1179C>A XP_006723895.1:p.His393Gln
NM_020433.5:c.1179C>A MANE Select NP_065166.2:p.His393Gln
Search 100 bp 5'
Search 100 bp 3'