Canonical Allele Identifier: CA409101677
Gene: JPH2 HGNC NCBI

Linked Data

COSMIC: COSM4789567
MyVariant Identifiers: chr20:g.42747155G>T (hg19) chr20:g.44118515G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118515G>T , CM000682.2:g.44118515G>T GRCh38
NC_000020.10:g.42747155G>T , CM000682.1:g.42747155G>T GRCh37
NC_000020.9:g.42180569G>T NCBI36
NG_031867.1:g.74064C>A , LRG_394:g.74064C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1278C>A MANE Select ENSP00000362071.3:p.Phe426Leu
ENST00000372980.3:c.1278C>A ENSP00000362071.3:p.Phe426Leu
NM_020433.4:c.1278C>A , LRG_394t1:c.1278C>A NP_065166.2:p.Phe426Leu
XM_006723832.2:c.1278C>A XP_006723895.1:p.Phe426Leu
NM_020433.5:c.1278C>A MANE Select NP_065166.2:p.Phe426Leu
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