Canonical Allele Identifier: CA409101697

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42747165G>A (hg19) ; chr20:g.44118525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118525G>A , CM000682.2:g.44118525G>A	GRCh38
NC_000020.10:g.42747165G>A , CM000682.1:g.42747165G>A	GRCh37
NC_000020.9:g.42180579G>A	NCBI36
NG_031867.1:g.74054C>T , LRG_394:g.74054C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.1268C>T MANE Select	ENSP00000362071.3:p.Ala423Val
ENST00000372980.3:c.1268C>T	ENSP00000362071.3:p.Ala423Val
NM_020433.4:c.1268C>T , LRG_394t1:c.1268C>T	NP_065166.2:p.Ala423Val
XM_006723832.2:c.1268C>T	XP_006723895.1:p.Ala423Val
NM_020433.5:c.1268C>T MANE Select	NP_065166.2:p.Ala423Val