Canonical Allele Identifier: CA9868691
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 578047
ClinVar RCV Id: RCV000700938 RCV002369927
dbSNP Id: rs753716480
ExAC: 20:42747166 C / A
gnomAD v2: 20-42747166-C-A
gnomAD v3: 20-44118526-C-A
gnomAD v4: 20-44118526-C-A
MyVariant Identifiers: chr20:g.42747166C>A (hg19) chr20:g.44118526C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118526C>A , CM000682.2:g.44118526C>A GRCh38
NC_000020.10:g.42747166C>A , CM000682.1:g.42747166C>A GRCh37
NC_000020.9:g.42180580C>A NCBI36
NG_031867.1:g.74053G>T , LRG_394:g.74053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1267G>T MANE Select ENSP00000362071.3:p.Ala423Ser
ENST00000372980.3:c.1267G>T ENSP00000362071.3:p.Ala423Ser
NM_020433.4:c.1267G>T , LRG_394t1:c.1267G>T NP_065166.2:p.Ala423Ser
XM_006723832.2:c.1267G>T XP_006723895.1:p.Ala423Ser
NM_020433.5:c.1267G>T MANE Select NP_065166.2:p.Ala423Ser
Search 100 bp 5'
Search 100 bp 3'