Canonical Allele Identifier: CA10577122
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228754
ClinVar RCV Id: RCV000214453
dbSNP Id: rs876657835
MyVariant Identifiers: chr20:g.42788930A>C (hg19) chr20:g.44160290A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160290A>C , CM000682.2:g.44160290A>C GRCh38
NC_000020.10:g.42788930A>C , CM000682.1:g.42788930A>C GRCh37
NC_000020.9:g.42222344A>C NCBI36
NG_031867.1:g.32289T>G , LRG_394:g.32289T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.497T>G MANE Select ENSP00000362071.3:p.Leu166Arg
ENST00000372980.3:c.497T>G ENSP00000362071.3:p.Leu166Arg
NM_020433.4:c.497T>G , LRG_394t1:c.497T>G NP_065166.2:p.Leu166Arg
XM_006723832.2:c.497T>G XP_006723895.1:p.Leu166Arg
NM_020433.5:c.497T>G MANE Select NP_065166.2:p.Leu166Arg
Search 100 bp 5'
Search 100 bp 3'