Canonical Allele Identifier: CA174241360

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 1418765
• ClinVar RCV Id: RCV001940512
• dbSNP Id: rs968676056
• COSMIC: COSM3647810
• MyVariant Identifiers: chr8:g.27320720C>T (hg19) ; chr8:g.27463203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463203C>T , CM000670.2:g.27463203C>T	GRCh38
NC_000008.10:g.27320720C>T , CM000670.1:g.27320720C>T	GRCh37
NC_000008.9:g.27376637C>T	NCBI36
NG_015827.1:g.21094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1240G>A MANE Select	ENSP00000385026.1:p.Glu414Lys
ENST00000240132.7:c.1195G>A	ENSP00000240132.2:p.Glu399Lys
ENST00000407991.2:c.1240G>A	ENSP00000385026.1:p.Glu414Lys
ENST00000520600.1:n.290-1449G>A
ENST00000520933.7:c.1174G>A	ENSP00000429616.2:p.Glu392Lys
ENST00000523695.5:c.*642G>A	ENSP00000430612.1:n.*642G>A
NM_000742.3:c.1240G>A	NP_000733.2:p.Glu414Lys
NM_001282455.1:c.1195G>A	NP_001269384.1:p.Glu399Lys
XM_005273397.1:c.763G>A	XP_005273454.1:p.Glu255Lys
XM_006716282.1:c.1240G>A	XP_006716345.1:p.Glu414Lys
XM_011544388.1:c.1240G>A	XP_011542690.1:p.Glu414Lys
XM_011544389.1:c.646G>A	XP_011542691.1:p.Glu216Lys
NM_001347705.1:c.763G>A	NP_001334634.1:p.Glu255Lys
NM_001347706.1:c.763G>A	NP_001334635.1:p.Glu255Lys
NM_001347707.1:c.646G>A	NP_001334636.1:p.Glu216Lys
NM_001347708.1:c.646G>A	NP_001334637.1:p.Glu216Lys
XM_011544389.2:c.646G>A	XP_011542691.1:p.Glu216Lys
NM_000742.4:c.1240G>A MANE Select	NP_000733.2:p.Glu414Lys
NM_001282455.2:c.1195G>A	NP_001269384.1:p.Glu399Lys
NM_001347705.2:c.763G>A	NP_001334634.1:p.Glu255Lys
NM_001347706.2:c.763G>A	NP_001334635.1:p.Glu255Lys
NM_001347707.2:c.646G>A	NP_001334636.1:p.Glu216Lys
NM_001347708.2:c.646G>A	NP_001334637.1:p.Glu216Lys