Canonical Allele Identifier: CA4689519
Gene: CHRNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 649452
ClinVar RCV Id: RCV000804390
dbSNP Id: rs188098799
gnomAD v2: 8-27320816-G-A
gnomAD v3: 8-27463299-G-A
gnomAD v4: 8-27463299-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463299G>A , CM000670.2:g.27463299G>A GRCh38
NC_000008.10:g.27320816G>A , CM000670.1:g.27320816G>A GRCh37
NC_000008.9:g.27376733G>A NCBI36
NG_015827.1:g.20998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1144C>T MANE Select ENSP00000385026.1:p.Arg382Trp
ENST00000240132.7:c.1099C>T ENSP00000240132.2:p.Arg367Trp
ENST00000407991.2:c.1144C>T ENSP00000385026.1:p.Arg382Trp
ENST00000520600.1:n.290-1545C>T
ENST00000520933.7:c.1078C>T ENSP00000429616.2:p.Arg360Trp
ENST00000523695.5:c.*546C>T ENSP00000430612.1:n.*546C>T
NM_000742.3:c.1144C>T NP_000733.2:p.Arg382Trp
NM_001282455.1:c.1099C>T NP_001269384.1:p.Arg367Trp
XM_005273397.1:c.667C>T XP_005273454.1:p.Arg223Trp
XM_006716282.1:c.1144C>T XP_006716345.1:p.Arg382Trp
XM_011544388.1:c.1144C>T XP_011542690.1:p.Arg382Trp
XM_011544389.1:c.550C>T XP_011542691.1:p.Arg184Trp
NM_001347705.1:c.667C>T NP_001334634.1:p.Arg223Trp
NM_001347706.1:c.667C>T NP_001334635.1:p.Arg223Trp
NM_001347707.1:c.550C>T NP_001334636.1:p.Arg184Trp
NM_001347708.1:c.550C>T NP_001334637.1:p.Arg184Trp
XM_011544389.2:c.550C>T XP_011542691.1:p.Arg184Trp
NM_000742.4:c.1144C>T MANE Select NP_000733.2:p.Arg382Trp
NM_001282455.2:c.1099C>T NP_001269384.1:p.Arg367Trp
NM_001347705.2:c.667C>T NP_001334634.1:p.Arg223Trp
NM_001347706.2:c.667C>T NP_001334635.1:p.Arg223Trp
NM_001347707.2:c.550C>T NP_001334636.1:p.Arg184Trp
NM_001347708.2:c.550C>T NP_001334637.1:p.Arg184Trp