Canonical Allele Identifier: CA2697549785

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 2742834
• ClinVar RCV Id: RCV003583725

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463299_27463306dup , CM000670.2:g.27463299_27463306dup	GRCh38
NC_000008.10:g.27320816_27320823dup , CM000670.1:g.27320816_27320823dup	GRCh37
NC_000008.9:g.27376733_27376740dup	NCBI36
NG_015827.1:g.20992_20999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1138_1145dup MANE Select	ENSP00000385026.1:p.Pro383Ter
ENST00000240132.7:c.1093_1100dup	ENSP00000240132.2:p.Pro368Ter
ENST00000407991.2:c.1138_1145dup	ENSP00000385026.1:p.Pro383Ter
ENST00000520600.1:n.290-1551_290-1544dup
ENST00000520933.7:c.1072_1079dup	ENSP00000429616.2:p.Pro361Ter
ENST00000523695.5:c.*540_*547dup	ENSP00000430612.1:n.*540_*547dup
NM_000742.3:c.1138_1145dup	NP_000733.2:p.Pro383Ter
NM_001282455.1:c.1093_1100dup	NP_001269384.1:p.Pro368Ter
XM_005273397.1:c.661_668dup	XP_005273454.1:p.Pro224Ter
XM_006716282.1:c.1138_1145dup	XP_006716345.1:p.Pro383Ter
XM_011544388.1:c.1138_1145dup	XP_011542690.1:p.Pro383Ter
XM_011544389.1:c.544_551dup	XP_011542691.1:p.Pro185Ter
NM_001347705.1:c.661_668dup	NP_001334634.1:p.Pro224Ter
NM_001347706.1:c.661_668dup	NP_001334635.1:p.Pro224Ter
NM_001347707.1:c.544_551dup	NP_001334636.1:p.Pro185Ter
NM_001347708.1:c.544_551dup	NP_001334637.1:p.Pro185Ter
XM_011544389.2:c.544_551dup	XP_011542691.1:p.Pro185Ter
NM_000742.4:c.1138_1145dup MANE Select	NP_000733.2:p.Pro383Ter
NM_001282455.2:c.1093_1100dup	NP_001269384.1:p.Pro368Ter
NM_001347705.2:c.661_668dup	NP_001334634.1:p.Pro224Ter
NM_001347706.2:c.661_668dup	NP_001334635.1:p.Pro224Ter
NM_001347707.2:c.544_551dup	NP_001334636.1:p.Pro185Ter
NM_001347708.2:c.544_551dup	NP_001334637.1:p.Pro185Ter