Canonical Allele Identifier: CA6689942
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs376192429
ExAC: 12:72388212 T / C
gnomAD v2: 12-72388212-T-C
gnomAD v3: 12-71994432-T-C
gnomAD v4: 12-71994432-T-C
MyVariant Identifiers: chr12:g.72388212T>C (hg19) chr12:g.71994432T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994432T>C , CM000674.2:g.71994432T>C GRCh38
NC_000012.11:g.72388212T>C , CM000674.1:g.72388212T>C GRCh37
NC_000012.10:g.70674479T>C NCBI36
NG_008279.1:g.60587T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.942-7T>C MANE Select ENSP00000329093.3:n.942-7T>C
ENST00000333850.3:c.942-7T>C ENSP00000329093.3:n.942-7T>C
NM_173353.3:c.942-7T>C NP_775489.2:n.942-7T>C
XM_011537899.1:c.348-7T>C XP_011536201.1:n.348-7T>C
NM_173353.4:c.942-7T>C MANE Select NP_775489.2:n.942-7T>C
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