Canonical Allele Identifier: CA2686678224

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463274-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463275dup , CM000670.2:g.27463275dup	GRCh38
NC_000008.10:g.27320792dup , CM000670.1:g.27320792dup	GRCh37
NC_000008.9:g.27376709dup	NCBI36
NG_015827.1:g.21022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1168dup MANE Select	ENSP00000385026.1:p.Cys390LeufsTer?
ENST00000240132.7:c.1123dup	ENSP00000240132.2:p.Cys375LeufsTer?
ENST00000407991.2:c.1168dup	ENSP00000385026.1:p.Cys390LeufsTer?
ENST00000520600.1:n.290-1521dup
ENST00000520933.7:c.1102dup	ENSP00000429616.2:p.Cys368LeufsTer?
ENST00000523695.5:c.*570dup	ENSP00000430612.1:n.*570dup
NM_000742.3:c.1168dup	NP_000733.2:p.Cys390LeufsTer?
NM_001282455.1:c.1123dup	NP_001269384.1:p.Cys375LeufsTer?
XM_005273397.1:c.691dup	XP_005273454.1:p.Cys231LeufsTer?
XM_006716282.1:c.1168dup	XP_006716345.1:p.Cys390LeufsTer?
XM_011544388.1:c.1168dup	XP_011542690.1:p.Cys390LeufsTer?
XM_011544389.1:c.574dup	XP_011542691.1:p.Cys192LeufsTer?
NM_001347705.1:c.691dup	NP_001334634.1:p.Cys231LeufsTer?
NM_001347706.1:c.691dup	NP_001334635.1:p.Cys231LeufsTer?
NM_001347707.1:c.574dup	NP_001334636.1:p.Cys192LeufsTer?
NM_001347708.1:c.574dup	NP_001334637.1:p.Cys192LeufsTer?
XM_011544389.2:c.574dup	XP_011542691.1:p.Cys192LeufsTer?
NM_000742.4:c.1168dup MANE Select	NP_000733.2:p.Cys390LeufsTer?
NM_001282455.2:c.1123dup	NP_001269384.1:p.Cys375LeufsTer?
NM_001347705.2:c.691dup	NP_001334634.1:p.Cys231LeufsTer?
NM_001347706.2:c.691dup	NP_001334635.1:p.Cys231LeufsTer?
NM_001347707.2:c.574dup	NP_001334636.1:p.Cys192LeufsTer?
NM_001347708.2:c.574dup	NP_001334637.1:p.Cys192LeufsTer?