Canonical Allele Identifier: CA239226821
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs559712011
gnomAD v2: 12-72342205-G-A
gnomAD v3: 12-71948425-G-A
gnomAD v4: 12-71948425-G-A
MyVariant Identifiers: chr12:g.72342205G>A (hg19) chr12:g.71948425G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71948425G>A , CM000674.2:g.71948425G>A GRCh38
NC_000012.11:g.72342205G>A , CM000674.1:g.72342205G>A GRCh37
NC_000012.10:g.70628472G>A NCBI36
NG_008279.1:g.14580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.541-1163G>A MANE Select ENSP00000329093.3:n.541-1163G>A
ENST00000333850.3:c.541-1163G>A ENSP00000329093.3:n.541-1163G>A
ENST00000546576.1:n.551-1163G>A
NM_173353.3:c.541-1163G>A NP_775489.2:n.541-1163G>A
XM_011537899.1:c.-55+421G>A XP_011536201.1:n.-55+421G>A
XR_245894.2:n.641-1163G>A
XR_001748575.1:n.641-1163G>A
NM_173353.4:c.541-1163G>A MANE Select NP_775489.2:n.541-1163G>A
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