Canonical Allele Identifier: CA6689674
Gene: TPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.71941600C>A
GRCh37 chr12:g.72335380C>A
Revel Score:
ENST00000333850 (MANE Select) 0.380
ENST00000266669 0.380
gnomAD v2:
12:72335380 C / A
gnomAD v3:
12:71941600 C / A
gnomAD v4:
chr12-71941600-C-A
Joint Max Group AF 0.03106382 (EAS)
Genomes Max Group AF 0.01996297 (EAS)
Exomes Max Group AF 0.03214024 (EAS)
ClinVar RCV:
RCV000334080
RCV002502215
ClinVar Variation:
310378
dbSNP:
78162420
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71941600C>A , CM000674.2:g.71941600C>A GRCh38
NC_000012.11:g.72335380C>A , CM000674.1:g.72335380C>A GRCh37
NC_000012.10:g.70621647C>A NCBI36
NG_008279.1:g.7755C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.122C>A MANE Select ENSP00000329093.3:p.Ser41Tyr
ENST00000333850.3:c.122C>A ENSP00000329093.3:p.Ser41Tyr
ENST00000546576.1:n.132C>A
NM_173353.3:c.122C>A NP_775489.2:p.Ser41Tyr
XR_245894.2:n.222C>A
XR_001748575.1:n.222C>A
NM_173353.4:c.122C>A MANE Select NP_775489.2:p.Ser41Tyr
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