Canonical Allele Identifier: CA409094358
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1231304653
gnomAD v2: 20-42788979-C-T
gnomAD v4: 20-44160339-C-T
MyVariant Identifiers: chr20:g.42788979C>T (hg19) chr20:g.44160339C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160339C>T , CM000682.2:g.44160339C>T GRCh38
NC_000020.10:g.42788979C>T , CM000682.1:g.42788979C>T GRCh37
NC_000020.9:g.42222393C>T NCBI36
NG_031867.1:g.32240G>A , LRG_394:g.32240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.448G>A MANE Select ENSP00000362071.3:p.Gly150Arg
ENST00000372980.3:c.448G>A ENSP00000362071.3:p.Gly150Arg
NM_020433.4:c.448G>A , LRG_394t1:c.448G>A NP_065166.2:p.Gly150Arg
XM_006723832.2:c.448G>A XP_006723895.1:p.Gly150Arg
NM_020433.5:c.448G>A MANE Select NP_065166.2:p.Gly150Arg
Search 100 bp 5'
Search 100 bp 3'