Canonical Allele Identifier: CA2580078093

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 1936287
• ClinVar RCV Id: RCV002657978

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463182_27463183delinsGT , CM000670.2:g.27463182_27463183delinsGT	GRCh38
NC_000008.10:g.27320699_27320700delinsGT , CM000670.1:g.27320699_27320700delinsGT	GRCh37
NC_000008.9:g.27376616_27376617delinsGT	NCBI36
NG_015827.1:g.21114_21115delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1260_1261delinsAC MANE Select	ENSP00000385026.1:p.Asp421His
ENST00000240132.7:c.1215_1216delinsAC	ENSP00000240132.2:p.Asp406His
ENST00000407991.2:c.1260_1261delinsAC	ENSP00000385026.1:p.Asp421His
ENST00000520600.1:n.290-1429_290-1428delinsAC
ENST00000520933.7:c.1194_1195delinsAC	ENSP00000429616.2:p.Asp399His
ENST00000523695.5:c.*662_*663delinsAC	ENSP00000430612.1:n.*662_*663delinsAC
NM_000742.3:c.1260_1261delinsAC	NP_000733.2:p.Asp421His
NM_001282455.1:c.1215_1216delinsAC	NP_001269384.1:p.Asp406His
XM_005273397.1:c.783_784delinsAC	XP_005273454.1:p.Asp262His
XM_006716282.1:c.1260_1261delinsAC	XP_006716345.1:p.Asp421His
XM_011544388.1:c.1260_1261delinsAC	XP_011542690.1:p.Asp421His
XM_011544389.1:c.666_667delinsAC	XP_011542691.1:p.Asp223His
NM_001347705.1:c.783_784delinsAC	NP_001334634.1:p.Asp262His
NM_001347706.1:c.783_784delinsAC	NP_001334635.1:p.Asp262His
NM_001347707.1:c.666_667delinsAC	NP_001334636.1:p.Asp223His
NM_001347708.1:c.666_667delinsAC	NP_001334637.1:p.Asp223His
XM_011544389.2:c.666_667delinsAC	XP_011542691.1:p.Asp223His
NM_000742.4:c.1260_1261delinsAC MANE Select	NP_000733.2:p.Asp421His
NM_001282455.2:c.1215_1216delinsAC	NP_001269384.1:p.Asp406His
NM_001347705.2:c.783_784delinsAC	NP_001334634.1:p.Asp262His
NM_001347706.2:c.783_784delinsAC	NP_001334635.1:p.Asp262His
NM_001347707.2:c.666_667delinsAC	NP_001334636.1:p.Asp223His
NM_001347708.2:c.666_667delinsAC	NP_001334637.1:p.Asp223His