Canonical Allele Identifier: CA6977678

Gene: HTR2A

Linked Data

• dbSNP Id: rs539430264
• ExAC: 13:47469795 C / T
• gnomAD v2: 13-47469795-C-T
• gnomAD v3: 13-46895660-C-T
• gnomAD v4: 13-46895660-C-T
• COSMIC: COSM432449
• MyVariant Identifiers: chr13:g.47469795C>T (hg19) ; chr13:g.46895660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46895660C>T , CM000675.2:g.46895660C>T	GRCh38
NC_000013.10:g.47469795C>T , CM000675.1:g.47469795C>T	GRCh37
NC_000013.9:g.46367796C>T	NCBI36
NG_013011.1:g.6375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542664.4:c.247G>A MANE Select	ENSP00000437737.1:p.Val83Ile
ENST00000543956.5:c.-78+1014G>A	ENSP00000441861.2:n.-78+1014G>A
ENST00000378688.8:c.247G>A	ENSP00000367959.3:p.Val83Ile
ENST00000542664.3:c.247G>A	ENSP00000437737.1:p.Val83Ile
ENST00000543956.4:c.160+1014G>A	ENSP00000441861.1:n.160+1014G>A
ENST00000612998.1:c.154G>A	ENSP00000482708.1:p.Val52Ile
NM_000621.4:c.247G>A	NP_000612.1:p.Val83Ile
NM_001165947.2:c.160+1014G>A	NP_001159419.1:n.160+1014G>A
NM_000621.5:c.247G>A MANE Select	NP_000612.1:p.Val83Ile
NM_001165947.5:c.-78+1014G>A	NP_001159419.2:n.-78+1014G>A
NM_001378924.1:c.247G>A	NP_001365853.1:p.Val83Ile