Canonical Allele Identifier: CA1772814478
Community Standard Title: NM_000742.4(CHRNA2):c.836T= (p.Ile279=)
Gene: CHRNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463607A= , CM000670.2:g.27463607A= GRCh38
NC_000008.10:g.27321124A= , CM000670.1:g.27321124A= GRCh37
NC_000008.9:g.27377041A= NCBI36
NG_015827.1:g.20690T=

Transcript Alleles

HGVS Amino-acid Change
NM_000742.4:c.836T= MANE Select NP_000733.2:p.Ile279=
ENST00000407991.3:c.836T= MANE Select ENSP00000385026.1:p.Ile279=
NM_000742.3:c.836T= NP_000733.2:p.Ile279=
NM_001282455.1:c.791T= NP_001269384.1:p.Ile264=
NM_001282455.2:c.791T= NP_001269384.1:p.Ile264=
NM_001347705.1:c.359T= NP_001334634.1:p.Ile120=
NM_001347705.2:c.359T= NP_001334634.1:p.Ile120=
NM_001347706.1:c.359T= NP_001334635.1:p.Ile120=
NM_001347706.2:c.359T= NP_001334635.1:p.Ile120=
NM_001347707.1:c.242T= NP_001334636.1:p.Ile81=
NM_001347707.2:c.242T= NP_001334636.1:p.Ile81=
NM_001347708.1:c.242T= NP_001334637.1:p.Ile81=
NM_001347708.2:c.242T= NP_001334637.1:p.Ile81=
ENST00000240132.7:c.791T= ENSP00000240132.2:p.Ile264=
ENST00000407991.2:c.836T= ENSP00000385026.1:p.Ile279=
ENST00000520600.1:n.290-1853T=
ENST00000520933.7:c.770T= ENSP00000429616.2:p.Ile257=
ENST00000523695.5:c.*238T= ENSP00000430612.1:n.*238T=
ENST00000637241.1:c.*666T= ENSP00000490690.1:n.*666T=
XM_005273397.1:c.359T= XP_005273454.1:p.Ile120=
XM_006716282.1:c.836T= XP_006716345.1:p.Ile279=
XM_011544388.1:c.836T= XP_011542690.1:p.Ile279=
XM_011544389.1:c.242T= XP_011542691.1:p.Ile81=
XM_011544389.2:c.242T= XP_011542691.1:p.Ile81=