Canonical Allele Identifier: CA2779502046

Gene: CHRNA2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463296dup , CM000670.2:g.27463296dup	GRCh38
NC_000008.10:g.27320813dup , CM000670.1:g.27320813dup	GRCh37
NC_000008.9:g.27376730dup	NCBI36
NG_015827.1:g.21005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1151dup MANE Select	ENSP00000385026.1:p.Pro385ThrfsTer?
ENST00000240132.7:c.1106dup	ENSP00000240132.2:p.Pro370ThrfsTer?
ENST00000407991.2:c.1151dup	ENSP00000385026.1:p.Pro385ThrfsTer?
ENST00000520600.1:n.290-1538dup
ENST00000520933.7:c.1085dup	ENSP00000429616.2:p.Pro363ThrfsTer?
ENST00000523695.5:c.*553dup	ENSP00000430612.1:n.*553dup
NM_000742.3:c.1151dup	NP_000733.2:p.Pro385ThrfsTer?
NM_001282455.1:c.1106dup	NP_001269384.1:p.Pro370ThrfsTer?
XM_005273397.1:c.674dup	XP_005273454.1:p.Pro226ThrfsTer?
XM_006716282.1:c.1151dup	XP_006716345.1:p.Pro385ThrfsTer?
XM_011544388.1:c.1151dup	XP_011542690.1:p.Pro385ThrfsTer?
XM_011544389.1:c.557dup	XP_011542691.1:p.Pro187ThrfsTer?
NM_001347705.1:c.674dup	NP_001334634.1:p.Pro226ThrfsTer?
NM_001347706.1:c.674dup	NP_001334635.1:p.Pro226ThrfsTer?
NM_001347707.1:c.557dup	NP_001334636.1:p.Pro187ThrfsTer?
NM_001347708.1:c.557dup	NP_001334637.1:p.Pro187ThrfsTer?
XM_011544389.2:c.557dup	XP_011542691.1:p.Pro187ThrfsTer?
NM_000742.4:c.1151dup MANE Select	NP_000733.2:p.Pro385ThrfsTer?
NM_001282455.2:c.1106dup	NP_001269384.1:p.Pro370ThrfsTer?
NM_001347705.2:c.674dup	NP_001334634.1:p.Pro226ThrfsTer?
NM_001347706.2:c.674dup	NP_001334635.1:p.Pro226ThrfsTer?
NM_001347707.2:c.557dup	NP_001334636.1:p.Pro187ThrfsTer?
NM_001347708.2:c.557dup	NP_001334637.1:p.Pro187ThrfsTer?