Canonical Allele Identifier: CA510739222
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44160316-C-A
MyVariant Identifiers: chr20:g.42788956C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160316C>A , CM000682.2:g.44160316C>A GRCh38
NC_000020.10:g.42788956C>A , CM000682.1:g.42788956C>A GRCh37
NC_000020.9:g.42222370C>A NCBI36
NG_031867.1:g.32263G>T , LRG_394:g.32263G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.471G>T MANE Select ENSP00000362071.3:p.Ser157=
ENST00000372980.3:c.471G>T ENSP00000362071.3:p.Ser157=
NM_020433.4:c.471G>T , LRG_394t1:c.471G>T NP_065166.2:p.Ser157=
XM_006723832.2:c.471G>T XP_006723895.1:p.Ser157=
NM_020433.5:c.471G>T MANE Select NP_065166.2:p.Ser157=
Search 100 bp 5'
Search 100 bp 3'