Canonical Allele Identifier: CA249253470

Gene: HTR2A

Linked Data

• dbSNP Id: rs769988053
• gnomAD v2: 13-47409137-C-G
• gnomAD v4: 13-46835002-C-G
• MyVariant Identifiers: chr13:g.47409137C>G (hg19) ; chr13:g.46835002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46835002C>G , CM000675.2:g.46835002C>G	GRCh38
NC_000013.10:g.47409137C>G , CM000675.1:g.47409137C>G	GRCh37
NC_000013.9:g.46307138C>G	NCBI36
NG_013011.1:g.67033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542664.4:c.1251G>C MANE Select	ENSP00000437737.1:p.Leu417Phe
ENST00000543956.5:c.762G>C	ENSP00000441861.2:p.Leu254Phe
ENST00000378688.8:c.1251G>C	ENSP00000367959.3:p.Leu417Phe
ENST00000542664.3:c.1251G>C	ENSP00000437737.1:p.Leu417Phe
ENST00000543956.4:c.999G>C	ENSP00000441861.1:p.Leu333Phe
NM_000621.4:c.1251G>C	NP_000612.1:p.Leu417Phe
NM_001165947.2:c.999G>C	NP_001159419.1:p.Leu333Phe
NM_000621.5:c.1251G>C MANE Select	NP_000612.1:p.Leu417Phe
NM_001165947.5:c.762G>C	NP_001159419.2:p.Leu254Phe
NM_001378924.1:c.1251G>C	NP_001365853.1:p.Leu417Phe