Canonical Allele Identifier: CA460186388
Gene: CHRNA2 HGNC NCBI

Linked Data

dbSNP Id: rs1186527145
gnomAD v3: 8-27463291-T-A
gnomAD v4: 8-27463291-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463291T>A , CM000670.2:g.27463291T>A GRCh38
NC_000008.10:g.27320808T>A , CM000670.1:g.27320808T>A GRCh37
NC_000008.9:g.27376725T>A NCBI36
NG_015827.1:g.21006A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1152A>T MANE Select ENSP00000385026.1:p.Pro384=
ENST00000240132.7:c.1107A>T ENSP00000240132.2:p.Pro369=
ENST00000407991.2:c.1152A>T ENSP00000385026.1:p.Pro384=
ENST00000520600.1:n.290-1537A>T
ENST00000520933.7:c.1086A>T ENSP00000429616.2:p.Pro362=
ENST00000523695.5:c.*554A>T ENSP00000430612.1:n.*554A>T
NM_000742.3:c.1152A>T NP_000733.2:p.Pro384=
NM_001282455.1:c.1107A>T NP_001269384.1:p.Pro369=
XM_005273397.1:c.675A>T XP_005273454.1:p.Pro225=
XM_006716282.1:c.1152A>T XP_006716345.1:p.Pro384=
XM_011544388.1:c.1152A>T XP_011542690.1:p.Pro384=
XM_011544389.1:c.558A>T XP_011542691.1:p.Pro186=
NM_001347705.1:c.675A>T NP_001334634.1:p.Pro225=
NM_001347706.1:c.675A>T NP_001334635.1:p.Pro225=
NM_001347707.1:c.558A>T NP_001334636.1:p.Pro186=
NM_001347708.1:c.558A>T NP_001334637.1:p.Pro186=
XM_011544389.2:c.558A>T XP_011542691.1:p.Pro186=
NM_000742.4:c.1152A>T MANE Select NP_000733.2:p.Pro384=
NM_001282455.2:c.1107A>T NP_001269384.1:p.Pro369=
NM_001347705.2:c.675A>T NP_001334634.1:p.Pro225=
NM_001347706.2:c.675A>T NP_001334635.1:p.Pro225=
NM_001347707.2:c.558A>T NP_001334636.1:p.Pro186=
NM_001347708.2:c.558A>T NP_001334637.1:p.Pro186=