Canonical Allele Identifier: CA6689985
Gene: TPH2 HGNC NCBI
COSMIC:
COSM3753489 (not active)
MyVariant.info:
GRCh38 chr12:g.72022455A>T
GRCh37 chr12:g.72416235A>T
gnomAD v2:
12:72416235 A / T
gnomAD v3:
12:72022455 A / T
gnomAD v4:
chr12-72022455-A-T
Joint Max Group AF 0.64333384 (NFE)
Genomes Max Group AF 0.63350355 (NFE)
Exomes Max Group AF 0.64366443 (NFE)
ClinVar RCV:
RCV000405228
ClinVar Variation:
310388
dbSNP:
4290270
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.72022455A>T , CM000674.2:g.72022455A>T GRCh38
NC_000012.11:g.72416235A>T , CM000674.1:g.72416235A>T GRCh37
NC_000012.10:g.70702502A>T NCBI36
NG_008279.1:g.88610A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1125A>T MANE Select ENSP00000329093.3:p.Ala375=
ENST00000333850.3:c.1125A>T ENSP00000329093.3:p.Ala375=
NM_173353.3:c.1125A>T NP_775489.2:p.Ala375=
XM_011537899.1:c.531A>T XP_011536201.1:p.Ala177=
NM_173353.4:c.1125A>T MANE Select NP_775489.2:p.Ala375=
Search 100 bp 5'
Search 100 bp 3'