Canonical Allele Identifier: CA249240151
Gene: HTR2A HGNC NCBI
COSMIC:
COSN17936889 (not active)
MyVariant.info:
GRCh38 chr13:g.46863081G>T
GRCh37 chr13:g.47437216G>T
gnomAD v2:
13:47437216 G / T
gnomAD v3:
13:46863081 G / T
gnomAD v4:
chr13-46863081-G-T
Joint Max Group AF 0.93057198 (EAS)
Genomes Max Group AF 0.93057198 (EAS)
dbSNP:
1928042
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46863081G>T , CM000675.2:g.46863081G>T GRCh38
NC_000013.10:g.47437216G>T , CM000675.1:g.47437216G>T GRCh37
NC_000013.9:g.46335217G>T NCBI36
NG_013011.1:g.38954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000542664.4:c.614-27442C>A MANE Select ENSP00000437737.1:n.614-27442C>A
ENST00000543956.5:c.125-27442C>A ENSP00000441861.2:n.125-27442C>A
ENST00000378688.8:c.614-27442C>A ENSP00000367959.3:n.614-27442C>A
ENST00000542664.3:c.614-27442C>A ENSP00000437737.1:n.614-27442C>A
ENST00000543956.4:c.362-27442C>A ENSP00000441861.1:n.362-27442C>A
NM_000621.4:c.614-27442C>A NP_000612.1:n.614-27442C>A
NM_001165947.2:c.362-27442C>A NP_001159419.1:n.362-27442C>A
NM_000621.5:c.614-27442C>A MANE Select NP_000612.1:n.614-27442C>A
NM_001165947.5:c.125-27442C>A NP_001159419.2:n.125-27442C>A
NM_001378924.1:c.614-27442C>A NP_001365853.1:n.614-27442C>A
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