Canonical Allele Identifier: CA4689575
Gene: CHRNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463538G>A , CM000670.2:g.27463538G>A GRCh38
NC_000008.10:g.27321055G>A , CM000670.1:g.27321055G>A GRCh37
NC_000008.9:g.27376972G>A NCBI36
NG_015827.1:g.20759C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000742.4:c.905C>T MANE Select NP_000733.2:p.Ser302Leu
ENST00000407991.3:c.905C>T MANE Select ENSP00000385026.1:p.Ser302Leu
NM_000742.3:c.905C>T NP_000733.2:p.Ser302Leu
NM_001282455.1:c.860C>T NP_001269384.1:p.Ser287Leu
NM_001282455.2:c.860C>T NP_001269384.1:p.Ser287Leu
NM_001347705.1:c.428C>T NP_001334634.1:p.Ser143Leu
NM_001347705.2:c.428C>T NP_001334634.1:p.Ser143Leu
NM_001347706.1:c.428C>T NP_001334635.1:p.Ser143Leu
NM_001347706.2:c.428C>T NP_001334635.1:p.Ser143Leu
NM_001347707.1:c.311C>T NP_001334636.1:p.Ser104Leu
NM_001347707.2:c.311C>T NP_001334636.1:p.Ser104Leu
NM_001347708.1:c.311C>T NP_001334637.1:p.Ser104Leu
NM_001347708.2:c.311C>T NP_001334637.1:p.Ser104Leu
ENST00000240132.7:c.860C>T ENSP00000240132.2:p.Ser287Leu
ENST00000407991.2:c.905C>T ENSP00000385026.1:p.Ser302Leu
ENST00000520600.1:n.290-1784C>T
ENST00000520933.7:c.839C>T ENSP00000429616.2:p.Ser280Leu
ENST00000523695.5:c.*307C>T ENSP00000430612.1:n.*307C>T
ENST00000637241.1:c.*735C>T ENSP00000490690.1:n.*735C>T
XM_005273397.1:c.428C>T XP_005273454.1:p.Ser143Leu
XM_006716282.1:c.905C>T XP_006716345.1:p.Ser302Leu
XM_011544388.1:c.905C>T XP_011542690.1:p.Ser302Leu
XM_011544389.1:c.311C>T XP_011542691.1:p.Ser104Leu
XM_011544389.2:c.311C>T XP_011542691.1:p.Ser104Leu