Canonical Allele Identifier: CA409101881
Gene: JPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42747255T>A (hg19) chr20:g.44118615T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118615T>A , CM000682.2:g.44118615T>A GRCh38
NC_000020.10:g.42747255T>A , CM000682.1:g.42747255T>A GRCh37
NC_000020.9:g.42180669T>A NCBI36
NG_031867.1:g.73964A>T , LRG_394:g.73964A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1178A>T MANE Select ENSP00000362071.3:p.His393Leu
ENST00000372980.3:c.1178A>T ENSP00000362071.3:p.His393Leu
NM_020433.4:c.1178A>T , LRG_394t1:c.1178A>T NP_065166.2:p.His393Leu
XM_006723832.2:c.1178A>T XP_006723895.1:p.His393Leu
NM_020433.5:c.1178A>T MANE Select NP_065166.2:p.His393Leu
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