Canonical Allele Identifier: CA1139660411

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 931227
• ClinVar RCV Id: RCV001197603 ; RCV001863114
• dbSNP Id: rs1812569409
• gnomAD v4: 8-27463290-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463291del , CM000670.2:g.27463291del	GRCh38
NC_000008.10:g.27320808del , CM000670.1:g.27320808del	GRCh37
NC_000008.9:g.27376725del	NCBI36
NG_015827.1:g.21006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1152del MANE Select	ENSP00000385026.1:p.Pro385HisfsTer11
ENST00000240132.7:c.1107del	ENSP00000240132.2:p.Pro370HisfsTer11
ENST00000407991.2:c.1152del	ENSP00000385026.1:p.Pro385HisfsTer11
ENST00000520600.1:n.290-1537del
ENST00000520933.7:c.1086del	ENSP00000429616.2:p.Pro363HisfsTer11
ENST00000523695.5:c.*554del	ENSP00000430612.1:n.*554del
NM_000742.3:c.1152del	NP_000733.2:p.Pro385HisfsTer11
NM_001282455.1:c.1107del	NP_001269384.1:p.Pro370HisfsTer11
XM_005273397.1:c.675del	XP_005273454.1:p.Pro226HisfsTer11
XM_006716282.1:c.1152del	XP_006716345.1:p.Pro385HisfsTer11
XM_011544388.1:c.1152del	XP_011542690.1:p.Pro385HisfsTer11
XM_011544389.1:c.558del	XP_011542691.1:p.Pro187HisfsTer11
NM_001347705.1:c.675del	NP_001334634.1:p.Pro226HisfsTer11
NM_001347706.1:c.675del	NP_001334635.1:p.Pro226HisfsTer11
NM_001347707.1:c.558del	NP_001334636.1:p.Pro187HisfsTer11
NM_001347708.1:c.558del	NP_001334637.1:p.Pro187HisfsTer11
XM_011544389.2:c.558del	XP_011542691.1:p.Pro187HisfsTer11
NM_000742.4:c.1152del MANE Select	NP_000733.2:p.Pro385HisfsTer11
NM_001282455.2:c.1107del	NP_001269384.1:p.Pro370HisfsTer11
NM_001347705.2:c.675del	NP_001334634.1:p.Pro226HisfsTer11
NM_001347706.2:c.675del	NP_001334635.1:p.Pro226HisfsTer11
NM_001347707.2:c.558del	NP_001334636.1:p.Pro187HisfsTer11
NM_001347708.2:c.558del	NP_001334637.1:p.Pro187HisfsTer11