Canonical Allele Identifier: CA385782159
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1408336116
gnomAD v2: 12-72388314-C-T
gnomAD v4: 12-71994534-C-T
MyVariant Identifiers: chr12:g.72388314C>T (hg19) chr12:g.71994534C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994534C>T , CM000674.2:g.71994534C>T GRCh38
NC_000012.11:g.72388314C>T , CM000674.1:g.72388314C>T GRCh37
NC_000012.10:g.70674581C>T NCBI36
NG_008279.1:g.60689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1037C>T MANE Select ENSP00000329093.3:p.Ala346Val
ENST00000333850.3:c.1037C>T ENSP00000329093.3:p.Ala346Val
NM_173353.3:c.1037C>T NP_775489.2:p.Ala346Val
XM_011537899.1:c.443C>T XP_011536201.1:p.Ala148Val
NM_173353.4:c.1037C>T MANE Select NP_775489.2:p.Ala346Val
Search 100 bp 5'
Search 100 bp 3'