Canonical Allele Identifier: CA409095497
Gene: JPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42815228C>T (hg19) chr20:g.44186588C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44186588C>T , CM000682.2:g.44186588C>T GRCh38
NC_000020.10:g.42815228C>T , CM000682.1:g.42815228C>T GRCh37
NC_000020.9:g.42248642C>T NCBI36
NG_031867.1:g.5991G>A , LRG_394:g.5991G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.118G>A MANE Select ENSP00000362071.3:p.Gly40Ser
ENST00000342272.3:c.118G>A ENSP00000344590.3:p.Gly40Ser
ENST00000372980.3:c.118G>A ENSP00000362071.3:p.Gly40Ser
NM_020433.4:c.118G>A , LRG_394t1:c.118G>A NP_065166.2:p.Gly40Ser
NM_175913.3:c.118G>A NP_787109.2:p.Gly40Ser
XM_006723832.2:c.118G>A XP_006723895.1:p.Gly40Ser
XM_006723833.2:c.118G>A XP_006723896.1:p.Gly40Ser
XM_006723833.4:c.118G>A XP_006723896.1:p.Gly40Ser
NM_020433.5:c.118G>A MANE Select NP_065166.2:p.Gly40Ser
NM_175913.4:c.118G>A NP_787109.2:p.Gly40Ser
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