Canonical Allele Identifier: CA174242540
Gene: CHRNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463796A>G , CM000670.2:g.27463796A>G GRCh38
NC_000008.10:g.27321313A>G , CM000670.1:g.27321313A>G GRCh37
NC_000008.9:g.27377230A>G NCBI36
NG_015827.1:g.20501T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.647T>C MANE Select ENSP00000385026.1:p.Met216Thr
ENST00000637241.1:c.*477T>C ENSP00000490690.1:n.*477T>C
ENST00000240132.7:c.602T>C ENSP00000240132.2:p.Met201Thr
ENST00000407991.2:c.647T>C ENSP00000385026.1:p.Met216Thr
ENST00000520600.1:n.290-2042T>C
ENST00000520933.7:c.581T>C ENSP00000429616.2:p.Met194Thr
ENST00000522008.1:n.377T>C
ENST00000523695.5:c.*49T>C ENSP00000430612.1:n.*49T>C
NM_000742.3:c.647T>C NP_000733.2:p.Met216Thr
NM_001282455.1:c.602T>C NP_001269384.1:p.Met201Thr
XM_005273397.1:c.170T>C XP_005273454.1:p.Met57Thr
XM_006716282.1:c.647T>C XP_006716345.1:p.Met216Thr
XM_011544388.1:c.647T>C XP_011542690.1:p.Met216Thr
XM_011544389.1:c.53T>C XP_011542691.1:p.Met18Thr
NM_001347705.1:c.170T>C NP_001334634.1:p.Met57Thr
NM_001347706.1:c.170T>C NP_001334635.1:p.Met57Thr
NM_001347707.1:c.53T>C NP_001334636.1:p.Met18Thr
NM_001347708.1:c.53T>C NP_001334637.1:p.Met18Thr
XM_011544389.2:c.53T>C XP_011542691.1:p.Met18Thr
NM_000742.4:c.647T>C MANE Select NP_000733.2:p.Met216Thr
NM_001282455.2:c.602T>C NP_001269384.1:p.Met201Thr
NM_001347705.2:c.170T>C NP_001334634.1:p.Met57Thr
NM_001347706.2:c.170T>C NP_001334635.1:p.Met57Thr
NM_001347707.2:c.53T>C NP_001334636.1:p.Met18Thr
NM_001347708.2:c.53T>C NP_001334637.1:p.Met18Thr