Canonical Allele Identifier: CA13758675
Gene: TPH2 HGNC NCBI
dbSNP:
4760816
gnomAD v2:
12:72372601 C / T
gnomAD v3:
12:71978821 C / T
gnomAD v4:
chr12-71978821-C-T
Joint Max Group AF 0.57976944 (AFR)
Genomes Max Group AF 0.57946464 (AFR)
Exomes Max Group AF 0.57482673 (AFR)
MyVariant.info:
GRCh38 chr12:g.71978821C>T
GRCh37 chr12:g.72372601C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71978821C>T , CM000674.2:g.71978821C>T GRCh38
NC_000012.11:g.72372601C>T , CM000674.1:g.72372601C>T GRCh37
NC_000012.10:g.70658868C>T NCBI36
NG_008279.1:g.44976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.806-131C>T MANE Select ENSP00000329093.3:n.806-131C>T
ENST00000333850.3:c.806-131C>T ENSP00000329093.3:n.806-131C>T
NM_173353.3:c.806-131C>T NP_775489.2:n.806-131C>T
XM_011537899.1:c.212-131C>T XP_011536201.1:n.212-131C>T
NM_173353.4:c.806-131C>T MANE Select NP_775489.2:n.806-131C>T
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