Canonical Allele Identifier: CA409101694
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118523-G-A
COSMIC: COSM5392134
MyVariant Identifiers: chr20:g.42747163G>A (hg19) chr20:g.44118523G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118523G>A , CM000682.2:g.44118523G>A GRCh38
NC_000020.10:g.42747163G>A , CM000682.1:g.42747163G>A GRCh37
NC_000020.9:g.42180577G>A NCBI36
NG_031867.1:g.74056C>T , LRG_394:g.74056C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1270C>T MANE Select ENSP00000362071.3:p.Pro424Ser
ENST00000372980.3:c.1270C>T ENSP00000362071.3:p.Pro424Ser
NM_020433.4:c.1270C>T , LRG_394t1:c.1270C>T NP_065166.2:p.Pro424Ser
XM_006723832.2:c.1270C>T XP_006723895.1:p.Pro424Ser
NM_020433.5:c.1270C>T MANE Select NP_065166.2:p.Pro424Ser
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Search 100 bp 3'