Canonical Allele Identifier: CA409093577
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010150
ClinVar RCV Id: RCV001307736 RCV003399084
dbSNP Id: rs1226206290
gnomAD v3: 20-44159954-G-C
gnomAD v4: 20-44159954-G-C
MyVariant Identifiers: chr20:g.42788594G>C (hg19) chr20:g.44159954G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44159954G>C , CM000682.2:g.44159954G>C GRCh38
NC_000020.10:g.42788594G>C , CM000682.1:g.42788594G>C GRCh37
NC_000020.9:g.42222008G>C NCBI36
NG_031867.1:g.32625C>G , LRG_394:g.32625C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.833C>G MANE Select ENSP00000362071.3:p.Pro278Arg
ENST00000372980.3:c.833C>G ENSP00000362071.3:p.Pro278Arg
NM_020433.4:c.833C>G , LRG_394t1:c.833C>G NP_065166.2:p.Pro278Arg
XM_006723832.2:c.833C>G XP_006723895.1:p.Pro278Arg
NM_020433.5:c.833C>G MANE Select NP_065166.2:p.Pro278Arg
Search 100 bp 5'
Search 100 bp 3'