Canonical Allele Identifier: CA409101787
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118567T>G , CM000682.2:g.44118567T>G GRCh38
NC_000020.10:g.42747207T>G , CM000682.1:g.42747207T>G GRCh37
NC_000020.9:g.42180621T>G NCBI36
NG_031867.1:g.74012A>C , LRG_394:g.74012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1226A>C MANE Select ENSP00000362071.3:p.Asn409Thr
ENST00000372980.3:c.1226A>C ENSP00000362071.3:p.Asn409Thr
NM_020433.4:c.1226A>C , LRG_394t1:c.1226A>C NP_065166.2:p.Asn409Thr
XM_006723832.2:c.1226A>C XP_006723895.1:p.Asn409Thr
NM_020433.5:c.1226A>C MANE Select NP_065166.2:p.Asn409Thr