Canonical Allele Identifier: CA6689968
Gene: TPH2 HGNC NCBI
COSMIC:
COSN17913828 (not active)
MyVariant.info:
GRCh38 chr12:g.71994594G>T
GRCh37 chr12:g.72388374G>T
gnomAD v2:
12:72388374 G / T
gnomAD v3:
12:71994594 G / T
gnomAD v4:
chr12-71994594-G-T
Joint Max Group AF 0.95791544 (EAS)
Genomes Max Group AF 0.9359572 (EAS)
Exomes Max Group AF 0.95838284 (EAS)
dbSNP:
1007023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994594G>T , CM000674.2:g.71994594G>T GRCh38
NC_000012.11:g.72388374G>T , CM000674.1:g.72388374G>T GRCh37
NC_000012.10:g.70674641G>T NCBI36
NG_008279.1:g.60749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1068+29G>T MANE Select ENSP00000329093.3:n.1068+29G>T
ENST00000333850.3:c.1068+29G>T ENSP00000329093.3:n.1068+29G>T
NM_173353.3:c.1068+29G>T NP_775489.2:n.1068+29G>T
XM_011537899.1:c.474+29G>T XP_011536201.1:n.474+29G>T
NM_173353.4:c.1068+29G>T MANE Select NP_775489.2:n.1068+29G>T
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