Canonical Allele Identifier: CA480765013
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1872648027
gnomAD v3: 12-71994518-C-T
gnomAD v4: 12-71994518-C-T
MyVariant Identifiers: chr12:g.72388298C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994518C>T , CM000674.2:g.71994518C>T GRCh38
NC_000012.11:g.72388298C>T , CM000674.1:g.72388298C>T GRCh37
NC_000012.10:g.70674565C>T NCBI36
NG_008279.1:g.60673C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333850.4:c.1021C>T MANE Select ENSP00000329093.3:p.Leu341=
ENST00000333850.3:c.1021C>T ENSP00000329093.3:p.Leu341=
NM_173353.3:c.1021C>T NP_775489.2:p.Leu341=
XM_011537899.1:c.427C>T XP_011536201.1:p.Leu143=
NM_173353.4:c.1021C>T MANE Select NP_775489.2:p.Leu341=
Search 100 bp 5'
Search 100 bp 3'