Canonical Allele Identifier: CA314629692
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 454470
ClinVar RCV Id: RCV000538399
dbSNP Id: rs976272461
gnomAD v2: 20-42788807-T-C
gnomAD v3: 20-44160167-T-C
gnomAD v4: 20-44160167-T-C
MyVariant Identifiers: chr20:g.42788807T>C (hg19) chr20:g.44160167T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160167T>C , CM000682.2:g.44160167T>C GRCh38
NC_000020.10:g.42788807T>C , CM000682.1:g.42788807T>C GRCh37
NC_000020.9:g.42222221T>C NCBI36
NG_031867.1:g.32412A>G , LRG_394:g.32412A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.620A>G MANE Select ENSP00000362071.3:p.Asn207Ser
ENST00000372980.3:c.620A>G ENSP00000362071.3:p.Asn207Ser
NM_020433.4:c.620A>G , LRG_394t1:c.620A>G NP_065166.2:p.Asn207Ser
XM_006723832.2:c.620A>G XP_006723895.1:p.Asn207Ser
NM_020433.5:c.620A>G MANE Select NP_065166.2:p.Asn207Ser
Search 100 bp 5'
Search 100 bp 3'