Canonical Allele Identifier: CA6977703
Gene: HTR2A HGNC NCBI
COSMIC:
COSM3753711 (not active)
MyVariant.info:
GRCh38 chr13:g.46895805G>A
GRCh37 chr13:g.47469940G>A
gnomAD v2:
13:47469940 G / A
gnomAD v3:
13:46895805 G / A
gnomAD v4:
chr13-46895805-G-A
Joint Max Group AF 0.54061179 (EAS)
Genomes Max Group AF 0.56802662 (EAS)
Exomes Max Group AF 0.53517481 (EAS)
ClinVar RCV:
RCV000615560
ClinVar Variation:
511089
dbSNP:
6313
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46895805G>A , CM000675.2:g.46895805G>A GRCh38
NC_000013.10:g.47469940G>A , CM000675.1:g.47469940G>A GRCh37
NC_000013.9:g.46367941G>A NCBI36
NG_013011.1:g.6230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000542664.4:c.102C>T MANE Select ENSP00000437737.1:p.Ser34=
ENST00000543956.5:c.-78+869C>T ENSP00000441861.2:n.-78+869C>T
ENST00000378688.8:c.102C>T ENSP00000367959.3:p.Ser34=
ENST00000542664.3:c.102C>T ENSP00000437737.1:p.Ser34=
ENST00000543956.4:c.160+869C>T ENSP00000441861.1:n.160+869C>T
ENST00000612998.1:c.9C>T ENSP00000482708.1:p.Ser3=
NM_000621.4:c.102C>T NP_000612.1:p.Ser34=
NM_001165947.2:c.160+869C>T NP_001159419.1:n.160+869C>T
NM_000621.5:c.102C>T MANE Select NP_000612.1:p.Ser34=
NM_001165947.5:c.-78+869C>T NP_001159419.2:n.-78+869C>T
NM_001378924.1:c.102C>T NP_001365853.1:p.Ser34=
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