Canonical Allele Identifier: CA239240253
Gene: TPH2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.71972406C>T
GRCh37 chr12:g.72366186C>T
gnomAD v2:
12:72366186 C / T
gnomAD v3:
12:71972406 C / T
gnomAD v4:
chr12-71972406-C-T
Joint Max Group AF 0.57435663 (NFE)
Genomes Max Group AF 0.57407631 (NFE)
Exomes Max Group AF 0.57387999 (NFE)
dbSNP:
7963720
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71972406C>T , CM000674.2:g.71972406C>T GRCh38
NC_000012.11:g.72366186C>T , CM000674.1:g.72366186C>T GRCh37
NC_000012.10:g.70652453C>T NCBI36
NG_008279.1:g.38561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.609-113C>T MANE Select ENSP00000329093.3:n.609-113C>T
ENST00000333850.3:c.609-113C>T ENSP00000329093.3:n.609-113C>T
NM_173353.3:c.609-113C>T NP_775489.2:n.609-113C>T
XM_011537899.1:c.15-113C>T XP_011536201.1:n.15-113C>T
NM_173353.4:c.609-113C>T MANE Select NP_775489.2:n.609-113C>T
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