Canonical Allele Identifier: CA239239464

Gene: TPH2

Linked Data

• dbSNP Id: rs574464168
• gnomAD v2: 12-72414423-C-T
• gnomAD v3: 12-72020643-C-T
• gnomAD v4: 12-72020643-C-T
• MyVariant Identifiers: chr12:g.72414423C>T (hg19) ; chr12:g.72020643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.72020643C>T , CM000674.2:g.72020643C>T	GRCh38
NC_000012.11:g.72414423C>T , CM000674.1:g.72414423C>T	GRCh37
NC_000012.10:g.70700690C>T	NCBI36
NG_008279.1:g.86798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333850.4:c.1069-1756C>T MANE Select	ENSP00000329093.3:n.1069-1756C>T
ENST00000333850.3:c.1069-1756C>T	ENSP00000329093.3:n.1069-1756C>T
NM_173353.3:c.1069-1756C>T	NP_775489.2:n.1069-1756C>T
XM_011537899.1:c.475-1756C>T	XP_011536201.1:n.475-1756C>T
NM_173353.4:c.1069-1756C>T MANE Select	NP_775489.2:n.1069-1756C>T