Canonical Allele Identifier: CA116040
Gene: TPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.72031544G>A
GRCh37 chr12:g.72425324G>A
Revel Score:
ENST00000333850 (MANE Select) 0.765
gnomAD v2:
12:72425324 G / A
gnomAD v3:
12:72031544 G / A
gnomAD v4:
chr12-72031544-G-A
Joint Max Group AF 0.00000954 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000003312
ClinVar Variation:
3162
dbSNP:
120074175
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.72031544G>A , CM000674.2:g.72031544G>A GRCh38
NC_000012.11:g.72425324G>A , CM000674.1:g.72425324G>A GRCh37
NC_000012.10:g.70711591G>A NCBI36
NG_008279.1:g.97699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1322G>A MANE Select ENSP00000329093.3:p.Arg441His
ENST00000333850.3:c.1322G>A ENSP00000329093.3:p.Arg441His
ENST00000547278.1:n.78+153G>A
ENST00000547348.5:n.100+153G>A
ENST00000550403.5:n.120+153G>A
ENST00000551074.5:n.93+153G>A
NM_173353.3:c.1322G>A NP_775489.2:p.Arg441His
XM_011537899.1:c.728G>A XP_011536201.1:p.Arg243His
NM_173353.4:c.1322G>A MANE Select NP_775489.2:p.Arg441His
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