Canonical Allele Identifier: CA6689928
Gene: TPH2 HGNC NCBI
COSMIC:
COSM3753488 (not active)
MyVariant.info:
GRCh38 chr12:g.71979082A>G
GRCh37 chr12:g.72372862A>G
gnomAD v2:
12:72372862 A / G
gnomAD v3:
12:71979082 A / G
gnomAD v4:
chr12-71979082-A-G
Joint Max Group AF 0.59723485 (AFR)
Genomes Max Group AF 0.59522727 (AFR)
Exomes Max Group AF 0.59543434 (AFR)
ClinVar RCV:
RCV000305884
ClinVar Variation:
310386
dbSNP:
7305115
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71979082A>G , CM000674.2:g.71979082A>G GRCh38
NC_000012.11:g.72372862A>G , CM000674.1:g.72372862A>G GRCh37
NC_000012.10:g.70659129A>G NCBI36
NG_008279.1:g.45237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.936A>G MANE Select ENSP00000329093.3:p.Pro312=
ENST00000333850.3:c.936A>G ENSP00000329093.3:p.Pro312=
NM_173353.3:c.936A>G NP_775489.2:p.Pro312=
XM_011537899.1:c.342A>G XP_011536201.1:p.Pro114=
NM_173353.4:c.936A>G MANE Select NP_775489.2:p.Pro312=
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