Canonical Allele Identifier: CA510739635
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs2072596431
gnomAD v4: 20-44159959-G-A
COSMIC: COSM2149692
MyVariant Identifiers: chr20:g.42788599G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44159959G>A , CM000682.2:g.44159959G>A GRCh38
NC_000020.10:g.42788599G>A , CM000682.1:g.42788599G>A GRCh37
NC_000020.9:g.42222013G>A NCBI36
NG_031867.1:g.32620C>T , LRG_394:g.32620C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.828C>T MANE Select ENSP00000362071.3:p.Ala276=
ENST00000372980.3:c.828C>T ENSP00000362071.3:p.Ala276=
NM_020433.4:c.828C>T , LRG_394t1:c.828C>T NP_065166.2:p.Ala276=
XM_006723832.2:c.828C>T XP_006723895.1:p.Ala276=
NM_020433.5:c.828C>T MANE Select NP_065166.2:p.Ala276=
Search 100 bp 5'
Search 100 bp 3'