Canonical Allele Identifier: CA409093755
Gene: JPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42788678T>G (hg19) chr20:g.44160038T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160038T>G , CM000682.2:g.44160038T>G GRCh38
NC_000020.10:g.42788678T>G , CM000682.1:g.42788678T>G GRCh37
NC_000020.9:g.42222092T>G NCBI36
NG_031867.1:g.32541A>C , LRG_394:g.32541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.749A>C MANE Select ENSP00000362071.3:p.Lys250Thr
ENST00000372980.3:c.749A>C ENSP00000362071.3:p.Lys250Thr
NM_020433.4:c.749A>C , LRG_394t1:c.749A>C NP_065166.2:p.Lys250Thr
XM_006723832.2:c.749A>C XP_006723895.1:p.Lys250Thr
NM_020433.5:c.749A>C MANE Select NP_065166.2:p.Lys250Thr
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