Canonical Allele Identifier: CA334646197
Gene: HTR2C HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.114590222G>A
gnomAD v3:
X:114590222 G / A
gnomAD v4:
chrX-114590222-G-A
Joint Max Group AF 0.74815142 (EAS)
Genomes Max Group AF 0.74815142 (EAS)
dbSNP:
498177
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.114590222G>A , CM000685.2:g.114590222G>A GRCh38
NG_012082.2:g.11138G>A
NG_012082.3:g.11138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276198.6:c.-147+5563G>A MANE Select ENSP00000276198.1:n.-147+5563G>A
ENST00000276198.5:c.-147+5563G>A ENSP00000276198.1:n.-147+5563G>A
ENST00000371950.3:c.-147+5563G>A ENSP00000361018.3:n.-147+5563G>A
ENST00000371951.5:c.-238+5563G>A ENSP00000361019.1:n.-238+5563G>A
NM_000868.3:c.-147+5563G>A NP_000859.1:n.-147+5563G>A
NM_001256760.2:c.-238+5563G>A NP_001243689.1:n.-238+5563G>A
NM_001256761.2:c.-147+5563G>A NP_001243690.1:n.-147+5563G>A
NM_000868.4:c.-147+5563G>A MANE Select NP_000859.2:n.-147+5563G>A
NM_001256760.3:c.-238+5563G>A NP_001243689.2:n.-238+5563G>A
NM_001256761.3:c.-147+5563G>A NP_001243690.2:n.-147+5563G>A
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