Canonical Allele Identifier: CA4689525

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 587981
• ClinVar RCV Id: RCV000778857 ; RCV002312461 ; RCV003768122
• dbSNP Id: rs757376257
• ExAC: 8:27320854 G / GC
• gnomAD v2: 8-27320854-G-GC
• gnomAD v3: 8-27463337-G-GC
• gnomAD v4: 8-27463337-G-GC
• COSMIC: COSM308647
• MyVariant Identifiers: chr8:g.27320855dupC (hg19) ; chr8:g.27320854_27320855insC (hg19) ; chr8:g.27463338dupC (hg38) ; chr8:g.27463337_27463338insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463343dup , CM000670.2:g.27463343dup	GRCh38
NC_000008.10:g.27320860dup , CM000670.1:g.27320860dup	GRCh37
NC_000008.9:g.27376777dup	NCBI36
NG_015827.1:g.20959dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1105dup MANE Select	ENSP00000385026.1:p.Ala369GlyfsTer?
ENST00000240132.7:c.1060dup	ENSP00000240132.2:p.Ala354GlyfsTer?
ENST00000407991.2:c.1105dup	ENSP00000385026.1:p.Ala369GlyfsTer?
ENST00000520600.1:n.290-1584dup
ENST00000520933.7:c.1039dup	ENSP00000429616.2:p.Ala347GlyfsTer?
ENST00000523695.5:c.*507dup	ENSP00000430612.1:n.*507dup
NM_000742.3:c.1105dup	NP_000733.2:p.Ala369GlyfsTer?
NM_001282455.1:c.1060dup	NP_001269384.1:p.Ala354GlyfsTer?
XM_005273397.1:c.628dup	XP_005273454.1:p.Ala210GlyfsTer?
XM_006716282.1:c.1105dup	XP_006716345.1:p.Ala369GlyfsTer?
XM_011544388.1:c.1105dup	XP_011542690.1:p.Ala369GlyfsTer?
XM_011544389.1:c.511dup	XP_011542691.1:p.Ala171GlyfsTer?
NM_001347705.1:c.628dup	NP_001334634.1:p.Ala210GlyfsTer?
NM_001347706.1:c.628dup	NP_001334635.1:p.Ala210GlyfsTer?
NM_001347707.1:c.511dup	NP_001334636.1:p.Ala171GlyfsTer?
NM_001347708.1:c.511dup	NP_001334637.1:p.Ala171GlyfsTer?
XM_011544389.2:c.511dup	XP_011542691.1:p.Ala171GlyfsTer?
NM_000742.4:c.1105dup MANE Select	NP_000733.2:p.Ala369GlyfsTer?
NM_001282455.2:c.1060dup	NP_001269384.1:p.Ala354GlyfsTer?
NM_001347705.2:c.628dup	NP_001334634.1:p.Ala210GlyfsTer?
NM_001347706.2:c.628dup	NP_001334635.1:p.Ala210GlyfsTer?
NM_001347707.2:c.511dup	NP_001334636.1:p.Ala171GlyfsTer?
NM_001347708.2:c.511dup	NP_001334637.1:p.Ala171GlyfsTer?