Canonical Allele Identifier: CA460186321
Gene: CHRNA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27320781T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463264T>A , CM000670.2:g.27463264T>A GRCh38
NC_000008.10:g.27320781T>A , CM000670.1:g.27320781T>A GRCh37
NC_000008.9:g.27376698T>A NCBI36
NG_015827.1:g.21033A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1179A>T MANE Select ENSP00000385026.1:p.Leu393=
ENST00000240132.7:c.1134A>T ENSP00000240132.2:p.Leu378=
ENST00000407991.2:c.1179A>T ENSP00000385026.1:p.Leu393=
ENST00000520600.1:n.290-1510A>T
ENST00000520933.7:c.1113A>T ENSP00000429616.2:p.Leu371=
ENST00000523695.5:c.*581A>T ENSP00000430612.1:n.*581A>T
NM_000742.3:c.1179A>T NP_000733.2:p.Leu393=
NM_001282455.1:c.1134A>T NP_001269384.1:p.Leu378=
XM_005273397.1:c.702A>T XP_005273454.1:p.Leu234=
XM_006716282.1:c.1179A>T XP_006716345.1:p.Leu393=
XM_011544388.1:c.1179A>T XP_011542690.1:p.Leu393=
XM_011544389.1:c.585A>T XP_011542691.1:p.Leu195=
NM_001347705.1:c.702A>T NP_001334634.1:p.Leu234=
NM_001347706.1:c.702A>T NP_001334635.1:p.Leu234=
NM_001347707.1:c.585A>T NP_001334636.1:p.Leu195=
NM_001347708.1:c.585A>T NP_001334637.1:p.Leu195=
XM_011544389.2:c.585A>T XP_011542691.1:p.Leu195=
NM_000742.4:c.1179A>T MANE Select NP_000733.2:p.Leu393=
NM_001282455.2:c.1134A>T NP_001269384.1:p.Leu378=
NM_001347705.2:c.702A>T NP_001334634.1:p.Leu234=
NM_001347706.2:c.702A>T NP_001334635.1:p.Leu234=
NM_001347707.2:c.585A>T NP_001334636.1:p.Leu195=
NM_001347708.2:c.585A>T NP_001334637.1:p.Leu195=