Canonical Allele Identifier: CA4689529
Gene: CHRNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390463
dbSNP Id: rs149464248
gnomAD v2: 8-27320860-C-T
gnomAD v3: 8-27463343-C-T
gnomAD v4: 8-27463343-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463343C>T , CM000670.2:g.27463343C>T GRCh38
NC_000008.10:g.27320860C>T , CM000670.1:g.27320860C>T GRCh37
NC_000008.9:g.27376777C>T NCBI36
NG_015827.1:g.20954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1100G>A MANE Select ENSP00000385026.1:p.Arg367Gln
ENST00000240132.7:c.1055G>A ENSP00000240132.2:p.Arg352Gln
ENST00000407991.2:c.1100G>A ENSP00000385026.1:p.Arg367Gln
ENST00000520600.1:n.290-1589G>A
ENST00000520933.7:c.1034G>A ENSP00000429616.2:p.Arg345Gln
ENST00000523695.5:c.*502G>A ENSP00000430612.1:n.*502G>A
NM_000742.3:c.1100G>A NP_000733.2:p.Arg367Gln
NM_001282455.1:c.1055G>A NP_001269384.1:p.Arg352Gln
XM_005273397.1:c.623G>A XP_005273454.1:p.Arg208Gln
XM_006716282.1:c.1100G>A XP_006716345.1:p.Arg367Gln
XM_011544388.1:c.1100G>A XP_011542690.1:p.Arg367Gln
XM_011544389.1:c.506G>A XP_011542691.1:p.Arg169Gln
NM_001347705.1:c.623G>A NP_001334634.1:p.Arg208Gln
NM_001347706.1:c.623G>A NP_001334635.1:p.Arg208Gln
NM_001347707.1:c.506G>A NP_001334636.1:p.Arg169Gln
NM_001347708.1:c.506G>A NP_001334637.1:p.Arg169Gln
XM_011544389.2:c.506G>A XP_011542691.1:p.Arg169Gln
NM_000742.4:c.1100G>A MANE Select NP_000733.2:p.Arg367Gln
NM_001282455.2:c.1055G>A NP_001269384.1:p.Arg352Gln
NM_001347705.2:c.623G>A NP_001334634.1:p.Arg208Gln
NM_001347706.2:c.623G>A NP_001334635.1:p.Arg208Gln
NM_001347707.2:c.506G>A NP_001334636.1:p.Arg169Gln
NM_001347708.2:c.506G>A NP_001334637.1:p.Arg169Gln