Canonical Allele Identifier: CA6689954
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs755764502
ExAC: 12:72388302 C / T
gnomAD v2: 12-72388302-C-T
gnomAD v3: 12-71994522-C-T
gnomAD v4: 12-71994522-C-T
MyVariant Identifiers: chr12:g.72388302C>T (hg19) chr12:g.71994522C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994522C>T , CM000674.2:g.71994522C>T GRCh38
NC_000012.11:g.72388302C>T , CM000674.1:g.72388302C>T GRCh37
NC_000012.10:g.70674569C>T NCBI36
NG_008279.1:g.60677C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333850.4:c.1025C>T MANE Select ENSP00000329093.3:p.Ala342Val
ENST00000333850.3:c.1025C>T ENSP00000329093.3:p.Ala342Val
NM_173353.3:c.1025C>T NP_775489.2:p.Ala342Val
XM_011537899.1:c.431C>T XP_011536201.1:p.Ala144Val
NM_173353.4:c.1025C>T MANE Select NP_775489.2:p.Ala342Val
Search 100 bp 5'
Search 100 bp 3'