Canonical Allele Identifier: CA409094316
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44160317-G-T
MyVariant Identifiers: chr20:g.42788957G>T (hg19) chr20:g.44160317G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160317G>T , CM000682.2:g.44160317G>T GRCh38
NC_000020.10:g.42788957G>T , CM000682.1:g.42788957G>T GRCh37
NC_000020.9:g.42222371G>T NCBI36
NG_031867.1:g.32262C>A , LRG_394:g.32262C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.470C>A MANE Select ENSP00000362071.3:p.Ser157Ter
ENST00000372980.3:c.470C>A ENSP00000362071.3:p.Ser157Ter
NM_020433.4:c.470C>A , LRG_394t1:c.470C>A NP_065166.2:p.Ser157Ter
XM_006723832.2:c.470C>A XP_006723895.1:p.Ser157Ter
NM_020433.5:c.470C>A MANE Select NP_065166.2:p.Ser157Ter
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