Canonical Allele Identifier: CA239233031

Gene: TPH2

Linked Data

• dbSNP Id: rs891578059
• gnomAD v2: 12-72405199-T-C
• gnomAD v3: 12-72011419-T-C
• gnomAD v4: 12-72011419-T-C
• MyVariant Identifiers: chr12:g.72405199T>C (hg19) ; chr12:g.72011419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.72011419T>C , CM000674.2:g.72011419T>C	GRCh38
NC_000012.11:g.72405199T>C , CM000674.1:g.72405199T>C	GRCh37
NC_000012.10:g.70691466T>C	NCBI36
NG_008279.1:g.77574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333850.4:c.1069-10980T>C MANE Select	ENSP00000329093.3:n.1069-10980T>C
ENST00000333850.3:c.1069-10980T>C	ENSP00000329093.3:n.1069-10980T>C
NM_173353.3:c.1069-10980T>C	NP_775489.2:n.1069-10980T>C
XM_011537899.1:c.475-10980T>C	XP_011536201.1:n.475-10980T>C
NM_173353.4:c.1069-10980T>C MANE Select	NP_775489.2:n.1069-10980T>C