Canonical Allele Identifier: CA409101745
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118549G>C , CM000682.2:g.44118549G>C GRCh38
NC_000020.10:g.42747189G>C , CM000682.1:g.42747189G>C GRCh37
NC_000020.9:g.42180603G>C NCBI36
NG_031867.1:g.74030C>G , LRG_394:g.74030C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1244C>G MANE Select ENSP00000362071.3:p.Ala415Gly
ENST00000372980.3:c.1244C>G ENSP00000362071.3:p.Ala415Gly
NM_020433.4:c.1244C>G , LRG_394t1:c.1244C>G NP_065166.2:p.Ala415Gly
XM_006723832.2:c.1244C>G XP_006723895.1:p.Ala415Gly
NM_020433.5:c.1244C>G MANE Select NP_065166.2:p.Ala415Gly