Canonical Allele Identifier: CA510739930

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42815229A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186589A>C , CM000682.2:g.44186589A>C	GRCh38
NC_000020.10:g.42815229A>C , CM000682.1:g.42815229A>C	GRCh37
NC_000020.9:g.42248643A>C	NCBI36
NG_031867.1:g.5990T>G , LRG_394:g.5990T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.117T>G MANE Select	ENSP00000362071.3:p.Ser39=
ENST00000342272.3:c.117T>G	ENSP00000344590.3:p.Ser39=
ENST00000372980.3:c.117T>G	ENSP00000362071.3:p.Ser39=
NM_020433.4:c.117T>G , LRG_394t1:c.117T>G	NP_065166.2:p.Ser39=
NM_175913.3:c.117T>G	NP_787109.2:p.Ser39=
XM_006723832.2:c.117T>G	XP_006723895.1:p.Ser39=
XM_006723833.2:c.117T>G	XP_006723896.1:p.Ser39=
XM_006723833.4:c.117T>G	XP_006723896.1:p.Ser39=
NM_020433.5:c.117T>G MANE Select	NP_065166.2:p.Ser39=
NM_175913.4:c.117T>G	NP_787109.2:p.Ser39=