Canonical Allele Identifier: CA249259722
Gene: HTR2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2643809
ClinVar RCV Id: RCV003398343
dbSNP Id: rs909805204
gnomAD v2: 13-47466667-G-C
gnomAD v4: 13-46892532-G-C
MyVariant Identifiers: chr13:g.47466667G>C (hg19) chr13:g.46892532G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.46892532G>C , CM000675.2:g.46892532G>C GRCh38
NC_000013.10:g.47466667G>C , CM000675.1:g.47466667G>C GRCh37
NC_000013.9:g.46364668G>C NCBI36
NG_013011.1:g.9503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000542664.4:c.471C>G MANE Select ENSP00000437737.1:p.Leu157=
ENST00000543956.5:c.-19C>G ENSP00000441861.2:n.-19C>G
ENST00000378688.8:c.471C>G ENSP00000367959.3:p.Leu157=
ENST00000542664.3:c.471C>G ENSP00000437737.1:p.Leu157=
ENST00000543956.4:c.219C>G ENSP00000441861.1:p.Leu73=
NM_000621.4:c.471C>G NP_000612.1:p.Leu157=
NM_001165947.2:c.219C>G NP_001159419.1:p.Leu73=
NM_000621.5:c.471C>G MANE Select NP_000612.1:p.Leu157=
NM_001165947.5:c.-19C>G NP_001159419.2:n.-19C>G
NM_001378924.1:c.471C>G NP_001365853.1:p.Leu157=
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