Canonical Allele Identifier: CA850384191

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 2910933
• ClinVar RCV Id: RCV003747567
• dbSNP Id: rs1191450703
• MyVariant Identifiers: chr8:g.27320701del (hg19) ; chr8:g.27463184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463184del , CM000670.2:g.27463184del	GRCh38
NC_000008.10:g.27320701del , CM000670.1:g.27320701del	GRCh37
NC_000008.9:g.27376618del	NCBI36
NG_015827.1:g.21113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1259del MANE Select	ENSP00000385026.1:p.Glu420GlyfsTer?
ENST00000240132.7:c.1214del	ENSP00000240132.2:p.Glu405GlyfsTer?
ENST00000407991.2:c.1259del	ENSP00000385026.1:p.Glu420GlyfsTer?
ENST00000520600.1:n.290-1430del
ENST00000520933.7:c.1193del	ENSP00000429616.2:p.Glu398GlyfsTer?
ENST00000523695.5:c.*661del	ENSP00000430612.1:n.*661del
NM_000742.3:c.1259del	NP_000733.2:p.Glu420GlyfsTer?
NM_001282455.1:c.1214del	NP_001269384.1:p.Glu405GlyfsTer?
XM_005273397.1:c.782del	XP_005273454.1:p.Glu261GlyfsTer?
XM_006716282.1:c.1259del	XP_006716345.1:p.Glu420GlyfsTer?
XM_011544388.1:c.1259del	XP_011542690.1:p.Glu420GlyfsTer?
XM_011544389.1:c.665del	XP_011542691.1:p.Glu222GlyfsTer?
NM_001347705.1:c.782del	NP_001334634.1:p.Glu261GlyfsTer?
NM_001347706.1:c.782del	NP_001334635.1:p.Glu261GlyfsTer?
NM_001347707.1:c.665del	NP_001334636.1:p.Glu222GlyfsTer?
NM_001347708.1:c.665del	NP_001334637.1:p.Glu222GlyfsTer?
XM_011544389.2:c.665del	XP_011542691.1:p.Glu222GlyfsTer?
NM_000742.4:c.1259del MANE Select	NP_000733.2:p.Glu420GlyfsTer?
NM_001282455.2:c.1214del	NP_001269384.1:p.Glu405GlyfsTer?
NM_001347705.2:c.782del	NP_001334634.1:p.Glu261GlyfsTer?
NM_001347706.2:c.782del	NP_001334635.1:p.Glu261GlyfsTer?
NM_001347707.2:c.665del	NP_001334636.1:p.Glu222GlyfsTer?
NM_001347708.2:c.665del	NP_001334637.1:p.Glu222GlyfsTer?