Canonical Allele Identifier: CA409094296
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs587782951
MyVariant Identifiers: chr20:g.42788945G>C (hg19) chr20:g.44160305G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160305G>C , CM000682.2:g.44160305G>C GRCh38
NC_000020.10:g.42788945G>C , CM000682.1:g.42788945G>C GRCh37
NC_000020.9:g.42222359G>C NCBI36
NG_031867.1:g.32274C>G , LRG_394:g.32274C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.482C>G MANE Select ENSP00000362071.3:p.Thr161Arg
ENST00000372980.3:c.482C>G ENSP00000362071.3:p.Thr161Arg
NM_020433.4:c.482C>G , LRG_394t1:c.482C>G NP_065166.2:p.Thr161Arg
XM_006723832.2:c.482C>G XP_006723895.1:p.Thr161Arg
NM_020433.5:c.482C>G MANE Select NP_065166.2:p.Thr161Arg
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