Canonical Allele Identifier: CA288710
Gene: CHRNA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27470994G>A , CM000670.2:g.27470994G>A GRCh38
NC_000008.10:g.27328511G>A , CM000670.1:g.27328511G>A GRCh37
NC_000008.9:g.27384428G>A NCBI36
NG_015827.1:g.13303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.65C>T MANE Select ENSP00000385026.1:p.Thr22Ile
ENST00000637241.1:c.65C>T ENSP00000490690.1:p.Thr22Ile
ENST00000240132.7:c.65C>T ENSP00000240132.2:p.Thr22Ile
ENST00000407991.2:c.65C>T ENSP00000385026.1:p.Thr22Ile
ENST00000518712.5:c.65C>T ENSP00000430856.1:p.Thr22Ile
ENST00000520933.7:c.-52C>T ENSP00000429616.2:n.-52C>T
ENST00000521921.5:c.65C>T ENSP00000429953.1:p.Thr22Ile
ENST00000523695.5:c.65C>T ENSP00000430612.1:p.Thr22Ile
ENST00000524096.5:c.65C>T ENSP00000430422.1:p.Thr22Ile
NM_000742.3:c.65C>T NP_000733.2:p.Thr22Ile
NM_001282455.1:c.65C>T NP_001269384.1:p.Thr22Ile
XM_006716282.1:c.65C>T XP_006716345.1:p.Thr22Ile
XM_011544388.1:c.65C>T XP_011542690.1:p.Thr22Ile
XM_011544389.1:c.-394C>T XP_011542691.1:n.-394C>T
NM_001347705.1:c.-363C>T NP_001334634.1:n.-363C>T
NM_001347706.1:c.-408C>T NP_001334635.1:n.-408C>T
NM_001347707.1:c.-349C>T NP_001334636.1:n.-349C>T
NM_001347708.1:c.-397C>T NP_001334637.1:n.-397C>T
XM_011544389.2:c.-394C>T XP_011542691.1:n.-394C>T
NM_000742.4:c.65C>T MANE Select NP_000733.2:p.Thr22Ile
NM_001282455.2:c.65C>T NP_001269384.1:p.Thr22Ile
NM_001347705.2:c.-363C>T NP_001334634.1:n.-363C>T
NM_001347706.2:c.-408C>T NP_001334635.1:n.-408C>T
NM_001347707.2:c.-349C>T NP_001334636.1:n.-349C>T
NM_001347708.2:c.-397C>T NP_001334637.1:n.-397C>T