Canonical Allele Identifier: CA510739920

Gene: JPH2

Linked Data

• dbSNP Id: rs1468042806
• gnomAD v2: 20-42815223-G-A
• gnomAD v4: 20-44186583-G-A
• MyVariant Identifiers: chr20:g.42815223G>A (hg19) ; chr20:g.44186583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186583G>A , CM000682.2:g.44186583G>A	GRCh38
NC_000020.10:g.42815223G>A , CM000682.1:g.42815223G>A	GRCh37
NC_000020.9:g.42248637G>A	NCBI36
NG_031867.1:g.5996C>T , LRG_394:g.5996C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.123C>T MANE Select	ENSP00000362071.3:p.Ser41=
ENST00000342272.3:c.123C>T	ENSP00000344590.3:p.Ser41=
ENST00000372980.3:c.123C>T	ENSP00000362071.3:p.Ser41=
NM_020433.4:c.123C>T , LRG_394t1:c.123C>T	NP_065166.2:p.Ser41=
NM_175913.3:c.123C>T	NP_787109.2:p.Ser41=
XM_006723832.2:c.123C>T	XP_006723895.1:p.Ser41=
XM_006723833.2:c.123C>T	XP_006723896.1:p.Ser41=
XM_006723833.4:c.123C>T	XP_006723896.1:p.Ser41=
NM_020433.5:c.123C>T MANE Select	NP_065166.2:p.Ser41=
NM_175913.4:c.123C>T	NP_787109.2:p.Ser41=