Canonical Allele Identifier: CA409095498

Gene: JPH2

Linked Data

• gnomAD v4: 20-44186590-G-T
• MyVariant Identifiers: chr20:g.42815230G>T (hg19) ; chr20:g.44186590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186590G>T , CM000682.2:g.44186590G>T	GRCh38
NC_000020.10:g.42815230G>T , CM000682.1:g.42815230G>T	GRCh37
NC_000020.9:g.42248644G>T	NCBI36
NG_031867.1:g.5989C>A , LRG_394:g.5989C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.116C>A MANE Select	ENSP00000362071.3:p.Ser39Tyr
ENST00000342272.3:c.116C>A	ENSP00000344590.3:p.Ser39Tyr
ENST00000372980.3:c.116C>A	ENSP00000362071.3:p.Ser39Tyr
NM_020433.4:c.116C>A , LRG_394t1:c.116C>A	NP_065166.2:p.Ser39Tyr
NM_175913.3:c.116C>A	NP_787109.2:p.Ser39Tyr
XM_006723832.2:c.116C>A	XP_006723895.1:p.Ser39Tyr
XM_006723833.2:c.116C>A	XP_006723896.1:p.Ser39Tyr
XM_006723833.4:c.116C>A	XP_006723896.1:p.Ser39Tyr
NM_020433.5:c.116C>A MANE Select	NP_065166.2:p.Ser39Tyr
NM_175913.4:c.116C>A	NP_787109.2:p.Ser39Tyr