Canonical Allele Identifier: CA605811242
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1212093533
gnomAD v2: 12-72336471-GTACAAC-G
gnomAD v3: 12-71942691-GTACAAC-G
gnomAD v4: 12-71942691-GTACAAC-G
MyVariant Identifiers: chr12:g.72336472_72336477del (hg19) chr12:g.71942692_71942697del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71942694_71942699del , CM000674.2:g.71942694_71942699del GRCh38
NC_000012.11:g.72336474_72336479del , CM000674.1:g.72336474_72336479del GRCh37
NC_000012.10:g.70622741_70622746del NCBI36
NG_008279.1:g.8849_8854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.255+961_255+966del MANE Select ENSP00000329093.3:n.255+961_255+966del
ENST00000333850.3:c.255+961_255+966del ENSP00000329093.3:n.255+961_255+966del
ENST00000546576.1:n.265+961_265+966del
NM_173353.3:c.255+961_255+966del NP_775489.2:n.255+961_255+966del
XR_245894.2:n.355+961_355+966del
XR_001748575.1:n.355+961_355+966del
NM_173353.4:c.255+961_255+966del MANE Select NP_775489.2:n.255+961_255+966del
Search 100 bp 5'
Search 100 bp 3'