Canonical Allele Identifier: CA691623952
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1459899685
gnomAD v3: 12-71941963-G-GA
gnomAD v4: 12-71941963-G-GA
MyVariant Identifiers: chr12:g.72335743_72335744insA (hg19) chr12:g.71941963_71941964insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71941965dup , CM000674.2:g.71941965dup GRCh38
NC_000012.11:g.72335745dup , CM000674.1:g.72335745dup GRCh37
NC_000012.10:g.70622012dup NCBI36
NG_008279.1:g.8120dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.255+232dup MANE Select ENSP00000329093.3:n.255+232dup
ENST00000333850.3:c.255+232dup ENSP00000329093.3:n.255+232dup
ENST00000546576.1:n.265+232dup
NM_173353.3:c.255+232dup NP_775489.2:n.255+232dup
XR_245894.2:n.355+232dup
XR_001748575.1:n.355+232dup
NM_173353.4:c.255+232dup MANE Select NP_775489.2:n.255+232dup
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