Canonical Allele Identifier: CA580954930
Gene: CHRNA2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27464080G>A , CM000670.2:g.27464080G>A GRCh38
NC_000008.10:g.27321597G>A , CM000670.1:g.27321597G>A GRCh37
NC_000008.9:g.27377514G>A NCBI36
NG_015827.1:g.20217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.450-87C>T MANE Select ENSP00000385026.1:n.450-87C>T
ENST00000637241.1:c.*280-87C>T ENSP00000490690.1:n.*280-87C>T
ENST00000240132.7:c.405-87C>T ENSP00000240132.2:n.405-87C>T
ENST00000407991.2:c.450-87C>T ENSP00000385026.1:n.450-87C>T
ENST00000520600.1:n.290-2326C>T
ENST00000520933.7:c.384-87C>T ENSP00000429616.2:n.384-87C>T
ENST00000522008.1:n.185-92C>T
ENST00000523695.5:c.450-220C>T ENSP00000430612.1:n.450-220C>T
NM_000742.3:c.450-87C>T NP_000733.2:n.450-87C>T
NM_001282455.1:c.405-87C>T NP_001269384.1:n.405-87C>T
XM_005273397.1:c.-23-92C>T XP_005273454.1:n.-23-92C>T
XM_006716282.1:c.450-87C>T XP_006716345.1:n.450-87C>T
XM_011544388.1:c.450-87C>T XP_011542690.1:n.450-87C>T
XM_011544389.1:c.-9-223C>T XP_011542691.1:n.-9-223C>T
NM_001347705.1:c.-23-92C>T NP_001334634.1:n.-23-92C>T
NM_001347706.1:c.-23-92C>T NP_001334635.1:n.-23-92C>T
NM_001347707.1:c.-9-223C>T NP_001334636.1:n.-9-223C>T
NM_001347708.1:c.-12-220C>T NP_001334637.1:n.-12-220C>T
XM_011544389.2:c.-9-223C>T XP_011542691.1:n.-9-223C>T
NM_000742.4:c.450-87C>T MANE Select NP_000733.2:n.450-87C>T
NM_001282455.2:c.405-87C>T NP_001269384.1:n.405-87C>T
NM_001347705.2:c.-23-92C>T NP_001334634.1:n.-23-92C>T
NM_001347706.2:c.-23-92C>T NP_001334635.1:n.-23-92C>T
NM_001347707.2:c.-9-223C>T NP_001334636.1:n.-9-223C>T
NM_001347708.2:c.-12-220C>T NP_001334637.1:n.-12-220C>T