Canonical Allele Identifier: CA409101891
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118619-T-A
MyVariant Identifiers: chr20:g.42747259T>A (hg19) chr20:g.44118619T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118619T>A , CM000682.2:g.44118619T>A GRCh38
NC_000020.10:g.42747259T>A , CM000682.1:g.42747259T>A GRCh37
NC_000020.9:g.42180673T>A NCBI36
NG_031867.1:g.73960A>T , LRG_394:g.73960A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1174A>T MANE Select ENSP00000362071.3:p.Ser392Cys
ENST00000372980.3:c.1174A>T ENSP00000362071.3:p.Ser392Cys
NM_020433.4:c.1174A>T , LRG_394t1:c.1174A>T NP_065166.2:p.Ser392Cys
XM_006723832.2:c.1174A>T XP_006723895.1:p.Ser392Cys
NM_020433.5:c.1174A>T MANE Select NP_065166.2:p.Ser392Cys
Search 100 bp 5'
Search 100 bp 3'