Canonical Allele Identifier: CA388153290

Gene: HTR2A

Linked Data

• dbSNP Id: rs2138255797
• gnomAD v3: 13-46892572-G-A
• gnomAD v4: 13-46892572-G-A
• COSMIC: COSM1210110
• MyVariant Identifiers: chr13:g.47466707G>A (hg19) ; chr13:g.46892572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46892572G>A , CM000675.2:g.46892572G>A	GRCh38
NC_000013.10:g.47466707G>A , CM000675.1:g.47466707G>A	GRCh37
NC_000013.9:g.46364708G>A	NCBI36
NG_013011.1:g.9463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542664.4:c.431C>T MANE Select	ENSP00000437737.1:p.Pro144Leu
ENST00000543956.5:c.-59C>T	ENSP00000441861.2:n.-59C>T
ENST00000378688.8:c.431C>T	ENSP00000367959.3:p.Pro144Leu
ENST00000542664.3:c.431C>T	ENSP00000437737.1:p.Pro144Leu
ENST00000543956.4:c.179C>T	ENSP00000441861.1:p.Pro60Leu
NM_000621.4:c.431C>T	NP_000612.1:p.Pro144Leu
NM_001165947.2:c.179C>T	NP_001159419.1:p.Pro60Leu
NM_000621.5:c.431C>T MANE Select	NP_000612.1:p.Pro144Leu
NM_001165947.5:c.-59C>T	NP_001159419.2:n.-59C>T
NM_001378924.1:c.431C>T	NP_001365853.1:p.Pro144Leu