Canonical Allele Identifier: CA510571393

Gene: JPH2

Linked Data

• dbSNP Id: rs869025441
• MyVariant Identifiers: chr20:g.42747206G>A (hg19) ; chr20:g.44118566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118566G>A , CM000682.2:g.44118566G>A	GRCh38
NC_000020.10:g.42747206G>A , CM000682.1:g.42747206G>A	GRCh37
NC_000020.9:g.42180620G>A	NCBI36
NG_031867.1:g.74013C>T , LRG_394:g.74013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1227C>T MANE Select	ENSP00000362071.3:p.Asn409=
ENST00000372980.3:c.1227C>T	ENSP00000362071.3:p.Asn409=
NM_020433.4:c.1227C>T , LRG_394t1:c.1227C>T	NP_065166.2:p.Asn409=
XM_006723832.2:c.1227C>T	XP_006723895.1:p.Asn409=
NM_020433.5:c.1227C>T MANE Select	NP_065166.2:p.Asn409=