Canonical Allele Identifier: CA290081
Gene: CHRNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 136753
dbSNP Id: rs56344740

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463009G>T , CM000670.2:g.27463009G>T GRCh38
NC_000008.10:g.27320526G>T , CM000670.1:g.27320526G>T GRCh37
NC_000008.9:g.27376443G>T NCBI36
NG_015827.1:g.21288C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000407991.3:c.1434C>A MANE Select ENSP00000385026.1:p.Asp478Glu
ENST00000240132.7:c.1389C>A ENSP00000240132.2:p.Asp463Glu
ENST00000407991.2:c.1434C>A ENSP00000385026.1:p.Asp478Glu
ENST00000520600.1:n.290-1255C>A
ENST00000520933.7:c.1368C>A ENSP00000429616.2:p.Asp456Glu
ENST00000523695.5:c.*836C>A ENSP00000430612.1:p.=
NM_000742.3:c.1434C>A NP_000733.2:p.Asp478Glu
NM_001282455.1:c.1389C>A NP_001269384.1:p.Asp463Glu
XM_005273397.1:c.957C>A XP_005273454.1:p.Asp319Glu
XM_006716282.1:c.1434C>A XP_006716345.1:p.Asp478Glu
XM_011544388.1:c.1434C>A XP_011542690.1:p.Asp478Glu
XM_011544389.1:c.840C>A XP_011542691.1:p.Asp280Glu
NM_001347705.1:c.957C>A NP_001334634.1:p.Asp319Glu
NM_001347706.1:c.957C>A NP_001334635.1:p.Asp319Glu
NM_001347707.1:c.840C>A NP_001334636.1:p.Asp280Glu
NM_001347708.1:c.840C>A NP_001334637.1:p.Asp280Glu
XM_011544389.2:c.840C>A XP_011542691.1:p.Asp280Glu
NM_000742.4:c.1434C>A MANE Select NP_000733.2:p.Asp478Glu
NM_001282455.2:c.1389C>A NP_001269384.1:p.Asp463Glu
NM_001347705.2:c.957C>A NP_001334634.1:p.Asp319Glu
NM_001347706.2:c.957C>A NP_001334635.1:p.Asp319Glu
NM_001347707.2:c.840C>A NP_001334636.1:p.Asp280Glu
NM_001347708.2:c.840C>A NP_001334637.1:p.Asp280Glu