Canonical Allele Identifier: CA409095488

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42815224G>T (hg19) ; chr20:g.44186584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186584G>T , CM000682.2:g.44186584G>T	GRCh38
NC_000020.10:g.42815224G>T , CM000682.1:g.42815224G>T	GRCh37
NC_000020.9:g.42248638G>T	NCBI36
NG_031867.1:g.5995C>A , LRG_394:g.5995C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.122C>A MANE Select	ENSP00000362071.3:p.Ser41Tyr
ENST00000342272.3:c.122C>A	ENSP00000344590.3:p.Ser41Tyr
ENST00000372980.3:c.122C>A	ENSP00000362071.3:p.Ser41Tyr
NM_020433.4:c.122C>A , LRG_394t1:c.122C>A	NP_065166.2:p.Ser41Tyr
NM_175913.3:c.122C>A	NP_787109.2:p.Ser41Tyr
XM_006723832.2:c.122C>A	XP_006723895.1:p.Ser41Tyr
XM_006723833.2:c.122C>A	XP_006723896.1:p.Ser41Tyr
XM_006723833.4:c.122C>A	XP_006723896.1:p.Ser41Tyr
NM_020433.5:c.122C>A MANE Select	NP_065166.2:p.Ser41Tyr
NM_175913.4:c.122C>A	NP_787109.2:p.Ser41Tyr