Canonical Allele Identifier: CA9868707
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 524952
ClinVar RCV Id: RCV001756036
dbSNP Id: rs148621426
ExAC: 20:42747258 C / T
gnomAD v2: 20-42747258-C-T
gnomAD v3: 20-44118618-C-T
gnomAD v4: 20-44118618-C-T
MyVariant Identifiers: chr20:g.42747258C>T (hg19) chr20:g.44118618C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118618C>T , CM000682.2:g.44118618C>T GRCh38
NC_000020.10:g.42747258C>T , CM000682.1:g.42747258C>T GRCh37
NC_000020.9:g.42180672C>T NCBI36
NG_031867.1:g.73961G>A , LRG_394:g.73961G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1175G>A MANE Select ENSP00000362071.3:p.Ser392Asn
ENST00000372980.3:c.1175G>A ENSP00000362071.3:p.Ser392Asn
NM_020433.4:c.1175G>A , LRG_394t1:c.1175G>A NP_065166.2:p.Ser392Asn
XM_006723832.2:c.1175G>A XP_006723895.1:p.Ser392Asn
NM_020433.5:c.1175G>A MANE Select NP_065166.2:p.Ser392Asn
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