Canonical Allele Identifier: CA691623956
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1204084445
gnomAD v3: 12-71941977-G-C
gnomAD v4: 12-71941977-G-C
MyVariant Identifiers: chr12:g.72335757G>C (hg19) chr12:g.71941977G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71941977G>C , CM000674.2:g.71941977G>C GRCh38
NC_000012.11:g.72335757G>C , CM000674.1:g.72335757G>C GRCh37
NC_000012.10:g.70622024G>C NCBI36
NG_008279.1:g.8132G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.255+244G>C MANE Select ENSP00000329093.3:n.255+244G>C
ENST00000333850.3:c.255+244G>C ENSP00000329093.3:n.255+244G>C
ENST00000546576.1:n.265+244G>C
NM_173353.3:c.255+244G>C NP_775489.2:n.255+244G>C
XR_245894.2:n.355+244G>C
XR_001748575.1:n.355+244G>C
NM_173353.4:c.255+244G>C MANE Select NP_775489.2:n.255+244G>C
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