Canonical Allele Identifier: CA691628235

Gene: TPH2

Linked Data

• dbSNP Id: rs1407061930
• gnomAD v3: 12-71948537-A-C
• gnomAD v4: 12-71948537-A-C
• MyVariant Identifiers: chr12:g.72342317A>C (hg19) ; chr12:g.71948537A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.71948537A>C , CM000674.2:g.71948537A>C	GRCh38
NC_000012.11:g.72342317A>C , CM000674.1:g.72342317A>C	GRCh37
NC_000012.10:g.70628584A>C	NCBI36
NG_008279.1:g.14692A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333850.4:c.541-1051A>C MANE Select	ENSP00000329093.3:n.541-1051A>C
ENST00000333850.3:c.541-1051A>C	ENSP00000329093.3:n.541-1051A>C
ENST00000546576.1:n.551-1051A>C
NM_173353.3:c.541-1051A>C	NP_775489.2:n.541-1051A>C
XM_011537899.1:c.-55+533A>C	XP_011536201.1:n.-55+533A>C
XR_245894.2:n.641-1051A>C
XR_001748575.1:n.641-1051A>C
NM_173353.4:c.541-1051A>C MANE Select	NP_775489.2:n.541-1051A>C