Canonical Allele Identifier: CA2508809306
Gene: TPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.72022468_72022469insAG , CM000674.2:g.72022468_72022469insAG GRCh38
NC_000012.11:g.72416248_72416249insAG , CM000674.1:g.72416248_72416249insAG GRCh37
NC_000012.10:g.70702515_70702516insAG NCBI36
NG_008279.1:g.88623_88624insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000333850.4:c.1138_1139insAG MANE Select ENSP00000329093.3:p.Leu380GlnfsTer9
ENST00000333850.3:c.1138_1139insAG ENSP00000329093.3:p.Leu380GlnfsTer9
NM_173353.3:c.1138_1139insAG NP_775489.2:p.Leu380GlnfsTer9
XM_011537899.1:c.544_545insAG XP_011536201.1:p.Leu182GlnfsTer9
NM_173353.4:c.1138_1139insAG MANE Select NP_775489.2:p.Leu380GlnfsTer9