Canonical Allele Identifier: CA9868708
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs750632472
ExAC: 20:42747268 G / A
gnomAD v2: 20-42747268-G-A
gnomAD v4: 20-44118628-G-A
MyVariant Identifiers: chr20:g.42747268G>A (hg19) chr20:g.44118628G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118628G>A , CM000682.2:g.44118628G>A GRCh38
NC_000020.10:g.42747268G>A , CM000682.1:g.42747268G>A GRCh37
NC_000020.9:g.42180682G>A NCBI36
NG_031867.1:g.73951C>T , LRG_394:g.73951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1170-5C>T MANE Select ENSP00000362071.3:n.1170-5C>T
ENST00000372980.3:c.1170-5C>T ENSP00000362071.3:n.1170-5C>T
NM_020433.4:c.1170-5C>T , LRG_394t1:c.1170-5C>T NP_065166.2:n.1170-5C>T
XM_006723832.2:c.1170-5C>T XP_006723895.1:n.1170-5C>T
NM_020433.5:c.1170-5C>T MANE Select NP_065166.2:n.1170-5C>T
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