Canonical Allele Identifier: CA691590803
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1320729685
gnomAD v4: 12-71994518-CT-C
MyVariant Identifiers: chr12:g.72388299del (hg19) chr12:g.71994519del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994519del , CM000674.2:g.71994519del GRCh38
NC_000012.11:g.72388299del , CM000674.1:g.72388299del GRCh37
NC_000012.10:g.70674566del NCBI36
NG_008279.1:g.60674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1022del MANE Select ENSP00000329093.3:p.Leu341ArgfsTer14
ENST00000333850.3:c.1022del ENSP00000329093.3:p.Leu341ArgfsTer14
NM_173353.3:c.1022del NP_775489.2:p.Leu341ArgfsTer14
XM_011537899.1:c.428del XP_011536201.1:p.Leu143ArgfsTer14
NM_173353.4:c.1022del MANE Select NP_775489.2:p.Leu341ArgfsTer14
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