Canonical Allele Identifier: CA13593565
Gene: TPH2 HGNC NCBI
dbSNP:
1386486
gnomAD v2:
12:72412220 A / G
gnomAD v3:
12:72018440 A / G
gnomAD v4:
chr12-72018440-A-G
Joint Max Group AF 0.63310478 (NFE)
Genomes Max Group AF 0.63310478 (NFE)
MyVariant.info:
GRCh38 chr12:g.72018440A>G
GRCh37 chr12:g.72412220A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.72018440A>G , CM000674.2:g.72018440A>G GRCh38
NC_000012.11:g.72412220A>G , CM000674.1:g.72412220A>G GRCh37
NC_000012.10:g.70698487A>G NCBI36
NG_008279.1:g.84595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1069-3959A>G MANE Select ENSP00000329093.3:n.1069-3959A>G
ENST00000333850.3:c.1069-3959A>G ENSP00000329093.3:n.1069-3959A>G
NM_173353.3:c.1069-3959A>G NP_775489.2:n.1069-3959A>G
XM_011537899.1:c.475-3959A>G XP_011536201.1:n.475-3959A>G
NM_173353.4:c.1069-3959A>G MANE Select NP_775489.2:n.1069-3959A>G
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