Canonical Allele Identifier: CA2045533089
Gene: TPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994518_71994519delinsCT , CM000674.2:g.71994518_71994519delinsCT GRCh38
NC_000012.11:g.72388298_72388299delinsCT , CM000674.1:g.72388298_72388299delinsCT GRCh37
NC_000012.10:g.70674565_70674566delinsCT NCBI36
NG_008279.1:g.60673_60674delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000333850.4:c.1021_1022delinsCT MANE Select ENSP00000329093.3:p.Leu341=
ENST00000333850.3:c.1021_1022delinsCT ENSP00000329093.3:p.Leu341=
NM_173353.3:c.1021_1022delinsCT NP_775489.2:p.Leu341=
XM_011537899.1:c.427_428delinsCT XP_011536201.1:p.Leu143=
NM_173353.4:c.1021_1022delinsCT MANE Select NP_775489.2:p.Leu341=