Canonical Allele Identifier: CA10633543
Gene: TPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.72032174G>A
GRCh37 chr12:g.72425954G>A
gnomAD v2:
12:72425954 G / A
gnomAD v3:
12:72032174 G / A
gnomAD v4:
chr12-72032174-G-A
Joint Max Group AF 0.23992471 (EAS)
Genomes Max Group AF 0.23865697 (EAS)
Exomes Max Group AF 0.2291213 (EAS)
ClinVar RCV:
RCV000263324
ClinVar Variation:
310397
dbSNP:
17110747
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.72032174G>A , CM000674.2:g.72032174G>A GRCh38
NC_000012.11:g.72425954G>A , CM000674.1:g.72425954G>A GRCh37
NC_000012.10:g.70712221G>A NCBI36
NG_008279.1:g.98329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.*479G>A MANE Select ENSP00000329093.3:n.*479G>A
ENST00000333850.3:c.*479G>A ENSP00000329093.3:n.*479G>A
ENST00000547278.1:n.78+783G>A
ENST00000547348.5:n.100+783G>A
ENST00000550403.5:n.120+783G>A
ENST00000551074.5:n.93+783G>A
NM_173353.3:c.*479G>A NP_775489.2:n.*479G>A
XM_011537899.1:c.*479G>A XP_011536201.1:n.*479G>A
NM_173353.4:c.*479G>A MANE Select NP_775489.2:n.*479G>A
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