Canonical Allele Identifier: CA313452

Gene: CHRNA2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463712T>C , CM000670.2:g.27463712T>C	GRCh38
NC_000008.10:g.27321229T>C , CM000670.1:g.27321229T>C	GRCh37
NC_000008.9:g.27377146T>C	NCBI36
NG_015827.1:g.20585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.731A>G MANE Select	ENSP00000385026.1:p.Lys244Arg
ENST00000637241.1:c.*561A>G	ENSP00000490690.1:n.*561A>G
ENST00000240132.7:c.686A>G	ENSP00000240132.2:p.Lys229Arg
ENST00000407991.2:c.731A>G	ENSP00000385026.1:p.Lys244Arg
ENST00000520600.1:n.290-1958A>G
ENST00000520933.7:c.665A>G	ENSP00000429616.2:p.Lys222Arg
ENST00000522008.1:n.461A>G
ENST00000523695.5:c.*133A>G	ENSP00000430612.1:n.*133A>G
NM_000742.3:c.731A>G	NP_000733.2:p.Lys244Arg
NM_001282455.1:c.686A>G	NP_001269384.1:p.Lys229Arg
XM_005273397.1:c.254A>G	XP_005273454.1:p.Lys85Arg
XM_006716282.1:c.731A>G	XP_006716345.1:p.Lys244Arg
XM_011544388.1:c.731A>G	XP_011542690.1:p.Lys244Arg
XM_011544389.1:c.137A>G	XP_011542691.1:p.Lys46Arg
NM_001347705.1:c.254A>G	NP_001334634.1:p.Lys85Arg
NM_001347706.1:c.254A>G	NP_001334635.1:p.Lys85Arg
NM_001347707.1:c.137A>G	NP_001334636.1:p.Lys46Arg
NM_001347708.1:c.137A>G	NP_001334637.1:p.Lys46Arg
XM_011544389.2:c.137A>G	XP_011542691.1:p.Lys46Arg
NM_000742.4:c.731A>G MANE Select	NP_000733.2:p.Lys244Arg
NM_001282455.2:c.686A>G	NP_001269384.1:p.Lys229Arg
NM_001347705.2:c.254A>G	NP_001334634.1:p.Lys85Arg
NM_001347706.2:c.254A>G	NP_001334635.1:p.Lys85Arg
NM_001347707.2:c.137A>G	NP_001334636.1:p.Lys46Arg
NM_001347708.2:c.137A>G	NP_001334637.1:p.Lys46Arg