Canonical Allele Identifier: CA609929183

Gene: HTR2A

Linked Data

• dbSNP Id: rs1432207339
• gnomAD v2: 13-47469743-GAC-G
• MyVariant Identifiers: chr13:g.47469744_47469745del (hg19) ; chr13:g.46895609_46895610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46895611_46895612del , CM000675.2:g.46895611_46895612del	GRCh38
NC_000013.10:g.47469746_47469747del , CM000675.1:g.47469746_47469747del	GRCh37
NC_000013.9:g.46367747_46367748del	NCBI36
NG_013011.1:g.6425_6426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542664.4:c.297_298del MANE Select	ENSP00000437737.1:p.Ser100ProfsTer20
ENST00000543956.5:c.-78+1064_-78+1065del	ENSP00000441861.2:n.-78+1064_-78+1065del
ENST00000378688.8:c.297_298del	ENSP00000367959.3:p.Ser100ProfsTer20
ENST00000542664.3:c.297_298del	ENSP00000437737.1:p.Ser100ProfsTer20
ENST00000543956.4:c.160+1064_160+1065del	ENSP00000441861.1:n.160+1064_160+1065del
ENST00000612998.1:c.204_205del	ENSP00000482708.1:p.Ser69ProfsTer20
NM_000621.4:c.297_298del	NP_000612.1:p.Ser100ProfsTer20
NM_001165947.2:c.160+1064_160+1065del	NP_001159419.1:n.160+1064_160+1065del
NM_000621.5:c.297_298del MANE Select	NP_000612.1:p.Ser100ProfsTer20
NM_001165947.5:c.-78+1064_-78+1065del	NP_001159419.2:n.-78+1064_-78+1065del
NM_001378924.1:c.297_298del	NP_001365853.1:p.Ser100ProfsTer20