Canonical Allele Identifier: CA409101722

Gene: JPH2

Linked Data

• gnomAD v4: 20-44118537-G-A
• MyVariant Identifiers: chr20:g.42747177G>A (hg19) ; chr20:g.44118537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118537G>A , CM000682.2:g.44118537G>A	GRCh38
NC_000020.10:g.42747177G>A , CM000682.1:g.42747177G>A	GRCh37
NC_000020.9:g.42180591G>A	NCBI36
NG_031867.1:g.74042C>T , LRG_394:g.74042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1256C>T MANE Select	ENSP00000362071.3:p.Ala419Val
ENST00000372980.3:c.1256C>T	ENSP00000362071.3:p.Ala419Val
NM_020433.4:c.1256C>T , LRG_394t1:c.1256C>T	NP_065166.2:p.Ala419Val
XM_006723832.2:c.1256C>T	XP_006723895.1:p.Ala419Val
NM_020433.5:c.1256C>T MANE Select	NP_065166.2:p.Ala419Val