Canonical Allele Identifier: CA116042
Gene: TPH2 HGNC NCBI
COSMIC:
COSM195276
MyVariant.info:
GRCh38 chr12:g.71979053C>T
GRCh37 chr12:g.72372833C>T
Revel Score:
ENST00000333850 (MANE Select) 0.923
gnomAD v2:
12:72372833 C / T
gnomAD v4:
chr12-71979053-C-T
Joint Max Group AF 0.00003503 (NFE)
Exomes Max Group AF 0.00003717 (NFE)
ClinVar RCV:
RCV000003313
ClinVar Variation:
3163
dbSNP:
120074176
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71979053C>T , CM000674.2:g.71979053C>T GRCh38
NC_000012.11:g.72372833C>T , CM000674.1:g.72372833C>T GRCh37
NC_000012.10:g.70659100C>T NCBI36
NG_008279.1:g.45208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.907C>T MANE Select ENSP00000329093.3:p.Arg303Trp
ENST00000333850.3:c.907C>T ENSP00000329093.3:p.Arg303Trp
NM_173353.3:c.907C>T NP_775489.2:p.Arg303Trp
XM_011537899.1:c.313C>T XP_011536201.1:p.Arg105Trp
NM_173353.4:c.907C>T MANE Select NP_775489.2:p.Arg303Trp
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