Canonical Allele Identifier: CA10642412
Gene: TPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.71938935A>G
GRCh37 chr12:g.72332715A>G
gnomAD v2:
12:72332715 A / G
gnomAD v3:
12:71938935 A / G
gnomAD v4:
chr12-71938935-A-G
Joint Max Group AF 0.13845461 (EAS)
Genomes Max Group AF 0.15775037 (EAS)
Exomes Max Group AF 0.13491062 (EAS)
ClinVar RCV:
RCV000387456
ClinVar Variation:
310376
dbSNP:
11178998
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71938935A>G , CM000674.2:g.71938935A>G GRCh38
NC_000012.11:g.72332715A>G , CM000674.1:g.72332715A>G GRCh37
NC_000012.10:g.70618982A>G NCBI36
NG_008279.1:g.5090A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.-52A>G MANE Select ENSP00000329093.3:n.-52A>G
ENST00000333850.3:c.-52A>G ENSP00000329093.3:n.-52A>G
NM_173353.3:c.-52A>G NP_775489.2:n.-52A>G
XR_245894.2:n.49A>G
XR_001748575.1:n.49A>G
NM_173353.4:c.-52A>G MANE Select NP_775489.2:n.-52A>G
Search 100 bp 5'
Search 100 bp 3'