Canonical Allele Identifier: CA409101766
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118559A>G , CM000682.2:g.44118559A>G GRCh38
NC_000020.10:g.42747199A>G , CM000682.1:g.42747199A>G GRCh37
NC_000020.9:g.42180613A>G NCBI36
NG_031867.1:g.74020T>C , LRG_394:g.74020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1234T>C MANE Select ENSP00000362071.3:p.Ser412Pro
ENST00000372980.3:c.1234T>C ENSP00000362071.3:p.Ser412Pro
NM_020433.4:c.1234T>C , LRG_394t1:c.1234T>C NP_065166.2:p.Ser412Pro
XM_006723832.2:c.1234T>C XP_006723895.1:p.Ser412Pro
NM_020433.5:c.1234T>C MANE Select NP_065166.2:p.Ser412Pro