Canonical Allele Identifier: CA6977504
Gene: HTR2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2241051
ClinVar RCV Id: RCV004101314
dbSNP Id: rs201018904
ExAC: 13:47409049 C / T
gnomAD v2: 13-47409049-C-T
gnomAD v3: 13-46834914-C-T
gnomAD v4: 13-46834914-C-T
MyVariant Identifiers: chr13:g.47409049C>T (hg19) chr13:g.46834914C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46834914C>T , CM000675.2:g.46834914C>T GRCh38
NC_000013.10:g.47409049C>T , CM000675.1:g.47409049C>T GRCh37
NC_000013.9:g.46307050C>T NCBI36
NG_013011.1:g.67121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000542664.4:c.1339G>A MANE Select ENSP00000437737.1:p.Ala447Thr
ENST00000543956.5:c.850G>A ENSP00000441861.2:p.Ala284Thr
ENST00000378688.8:c.1339G>A ENSP00000367959.3:p.Ala447Thr
ENST00000542664.3:c.1339G>A ENSP00000437737.1:p.Ala447Thr
ENST00000543956.4:c.1087G>A ENSP00000441861.1:p.Ala363Thr
NM_000621.4:c.1339G>A NP_000612.1:p.Ala447Thr
NM_001165947.2:c.1087G>A NP_001159419.1:p.Ala363Thr
NM_000621.5:c.1339G>A MANE Select NP_000612.1:p.Ala447Thr
NM_001165947.5:c.850G>A NP_001159419.2:p.Ala284Thr
NM_001378924.1:c.1339G>A NP_001365853.1:p.Ala447Thr
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