Canonical Allele Identifier: CA239239671

Gene: TPH2

Linked Data

• dbSNP Id: rs374460834
• gnomAD v2: 12-72414605-GA-G
• gnomAD v3: 12-72020825-GA-G
• gnomAD v4: 12-72020825-GA-G
• MyVariant Identifiers: chr12:g.72414606del (hg19) ; chr12:g.72020826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.72020833del , CM000674.2:g.72020833del	GRCh38
NC_000012.11:g.72414613del , CM000674.1:g.72414613del	GRCh37
NC_000012.10:g.70700880del	NCBI36
NG_008279.1:g.86988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333850.4:c.1069-1566del MANE Select	ENSP00000329093.3:n.1069-1566del
ENST00000333850.3:c.1069-1566del	ENSP00000329093.3:n.1069-1566del
NM_173353.3:c.1069-1566del	NP_775489.2:n.1069-1566del
XM_011537899.1:c.475-1566del	XP_011536201.1:n.475-1566del
NM_173353.4:c.1069-1566del MANE Select	NP_775489.2:n.1069-1566del