Canonical Allele Identifier: CA239224369

Gene: TPH2

Linked Data

• dbSNP Id: rs139350268
• gnomAD v2: 12-72336619-T-C
• gnomAD v3: 12-71942839-T-C
• gnomAD v4: 12-71942839-T-C
• MyVariant Identifiers: chr12:g.72336619T>C (hg19) ; chr12:g.71942839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.71942839T>C , CM000674.2:g.71942839T>C	GRCh38
NC_000012.11:g.72336619T>C , CM000674.1:g.72336619T>C	GRCh37
NC_000012.10:g.70622886T>C	NCBI36
NG_008279.1:g.8994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333850.4:c.255+1106T>C MANE Select	ENSP00000329093.3:n.255+1106T>C
ENST00000333850.3:c.255+1106T>C	ENSP00000329093.3:n.255+1106T>C
ENST00000546576.1:n.265+1106T>C
NM_173353.3:c.255+1106T>C	NP_775489.2:n.255+1106T>C
XR_245894.2:n.355+1106T>C
XR_001748575.1:n.355+1106T>C
NM_173353.4:c.255+1106T>C MANE Select	NP_775489.2:n.255+1106T>C