Canonical Allele Identifier: CA288712

Gene: CHRNA2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463530G>A , CM000670.2:g.27463530G>A	GRCh38
NC_000008.10:g.27321047G>A , CM000670.1:g.27321047G>A	GRCh37
NC_000008.9:g.27376964G>A	NCBI36
NG_015827.1:g.20767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.913C>T MANE Select	ENSP00000385026.1:p.Leu305=
ENST00000637241.1:c.*743C>T	ENSP00000490690.1:n.*743C>T
ENST00000240132.7:c.868C>T	ENSP00000240132.2:p.Leu290=
ENST00000407991.2:c.913C>T	ENSP00000385026.1:p.Leu305=
ENST00000520600.1:n.290-1776C>T
ENST00000520933.7:c.847C>T	ENSP00000429616.2:p.Leu283=
ENST00000523695.5:c.*315C>T	ENSP00000430612.1:n.*315C>T
NM_000742.3:c.913C>T	NP_000733.2:p.Leu305=
NM_001282455.1:c.868C>T	NP_001269384.1:p.Leu290=
XM_005273397.1:c.436C>T	XP_005273454.1:p.Leu146=
XM_006716282.1:c.913C>T	XP_006716345.1:p.Leu305=
XM_011544388.1:c.913C>T	XP_011542690.1:p.Leu305=
XM_011544389.1:c.319C>T	XP_011542691.1:p.Leu107=
NM_001347705.1:c.436C>T	NP_001334634.1:p.Leu146=
NM_001347706.1:c.436C>T	NP_001334635.1:p.Leu146=
NM_001347707.1:c.319C>T	NP_001334636.1:p.Leu107=
NM_001347708.1:c.319C>T	NP_001334637.1:p.Leu107=
XM_011544389.2:c.319C>T	XP_011542691.1:p.Leu107=
NM_000742.4:c.913C>T MANE Select	NP_000733.2:p.Leu305=
NM_001282455.2:c.868C>T	NP_001269384.1:p.Leu290=
NM_001347705.2:c.436C>T	NP_001334634.1:p.Leu146=
NM_001347706.2:c.436C>T	NP_001334635.1:p.Leu146=
NM_001347707.2:c.319C>T	NP_001334636.1:p.Leu107=
NM_001347708.2:c.319C>T	NP_001334637.1:p.Leu107=