Canonical Allele Identifier: CA1772813877
Gene: CHRNA2 HGNC NCBI

Linked Data

dbSNP Id: rs1812571405

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463320del , CM000670.2:g.27463320del GRCh38
NC_000008.10:g.27320837del , CM000670.1:g.27320837del GRCh37
NC_000008.9:g.27376754del NCBI36
NG_015827.1:g.20980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1126del MANE Select ENSP00000385026.1:p.Arg376GlyfsTer4
ENST00000240132.7:c.1081del ENSP00000240132.2:p.Arg361GlyfsTer4
ENST00000407991.2:c.1126del ENSP00000385026.1:p.Arg376GlyfsTer4
ENST00000520600.1:n.290-1563del
ENST00000520933.7:c.1060del ENSP00000429616.2:p.Arg354GlyfsTer4
ENST00000523695.5:c.*528del ENSP00000430612.1:n.*528del
NM_000742.3:c.1126del NP_000733.2:p.Arg376GlyfsTer4
NM_001282455.1:c.1081del NP_001269384.1:p.Arg361GlyfsTer4
XM_005273397.1:c.649del XP_005273454.1:p.Arg217GlyfsTer4
XM_006716282.1:c.1126del XP_006716345.1:p.Arg376GlyfsTer4
XM_011544388.1:c.1126del XP_011542690.1:p.Arg376GlyfsTer4
XM_011544389.1:c.532del XP_011542691.1:p.Arg178GlyfsTer4
NM_001347705.1:c.649del NP_001334634.1:p.Arg217GlyfsTer4
NM_001347706.1:c.649del NP_001334635.1:p.Arg217GlyfsTer4
NM_001347707.1:c.532del NP_001334636.1:p.Arg178GlyfsTer4
NM_001347708.1:c.532del NP_001334637.1:p.Arg178GlyfsTer4
XM_011544389.2:c.532del XP_011542691.1:p.Arg178GlyfsTer4
NM_000742.4:c.1126del MANE Select NP_000733.2:p.Arg376GlyfsTer4
NM_001282455.2:c.1081del NP_001269384.1:p.Arg361GlyfsTer4
NM_001347705.2:c.649del NP_001334634.1:p.Arg217GlyfsTer4
NM_001347706.2:c.649del NP_001334635.1:p.Arg217GlyfsTer4
NM_001347707.2:c.532del NP_001334636.1:p.Arg178GlyfsTer4
NM_001347708.2:c.532del NP_001334637.1:p.Arg178GlyfsTer4