Canonical Allele Identifier: CA2499219211

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 1299109
• ClinVar RCV Id: RCV001727439
• dbSNP Id: rs2132650645
• gnomAD v4: 8-27463131-T-TGCAGAGGGTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463132_27463144dup , CM000670.2:g.27463132_27463144dup	GRCh38
NC_000008.10:g.27320649_27320661dup , CM000670.1:g.27320649_27320661dup	GRCh37
NC_000008.9:g.27376566_27376578dup	NCBI36
NG_015827.1:g.21153_21165dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000407991.3:c.1299_1311dup MANE Select	ENSP00000385026.1:p.Ser438GlyfsTer19
ENST00000240132.7:c.1254_1266dup	ENSP00000240132.2:p.Ser423GlyfsTer19
ENST00000407991.2:c.1299_1311dup	ENSP00000385026.1:p.Ser438GlyfsTer19
ENST00000520600.1:n.290-1390_290-1378dup
ENST00000520933.7:c.1233_1245dup	ENSP00000429616.2:p.Ser416GlyfsTer19
ENST00000523695.5:c.*701_*713dup	ENSP00000430612.1:n.*701_*713dup
NM_000742.3:c.1299_1311dup	NP_000733.2:p.Ser438GlyfsTer19
NM_001282455.1:c.1254_1266dup	NP_001269384.1:p.Ser423GlyfsTer19
XM_005273397.1:c.822_834dup	XP_005273454.1:p.Ser279GlyfsTer19
XM_006716282.1:c.1299_1311dup	XP_006716345.1:p.Ser438GlyfsTer19
XM_011544388.1:c.1299_1311dup	XP_011542690.1:p.Ser438GlyfsTer19
XM_011544389.1:c.705_717dup	XP_011542691.1:p.Ser240GlyfsTer19
NM_001347705.1:c.822_834dup	NP_001334634.1:p.Ser279GlyfsTer19
NM_001347706.1:c.822_834dup	NP_001334635.1:p.Ser279GlyfsTer19
NM_001347707.1:c.705_717dup	NP_001334636.1:p.Ser240GlyfsTer19
NM_001347708.1:c.705_717dup	NP_001334637.1:p.Ser240GlyfsTer19
XM_011544389.2:c.705_717dup	XP_011542691.1:p.Ser240GlyfsTer19
NM_000742.4:c.1299_1311dup MANE Select	NP_000733.2:p.Ser438GlyfsTer19
NM_001282455.2:c.1254_1266dup	NP_001269384.1:p.Ser423GlyfsTer19
NM_001347705.2:c.822_834dup	NP_001334634.1:p.Ser279GlyfsTer19
NM_001347706.2:c.822_834dup	NP_001334635.1:p.Ser279GlyfsTer19
NM_001347707.2:c.705_717dup	NP_001334636.1:p.Ser240GlyfsTer19
NM_001347708.2:c.705_717dup	NP_001334637.1:p.Ser240GlyfsTer19