Canonical Allele Identifier: CA2686678218

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463131-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463132del , CM000670.2:g.27463132del	GRCh38
NC_000008.10:g.27320649del , CM000670.1:g.27320649del	GRCh37
NC_000008.9:g.27376566del	NCBI36
NG_015827.1:g.21165del

Transcript Alleles

HGVS	Amino-acid change
ENST00000407991.3:c.1311del MANE Select	ENSP00000385026.1:p.Cys437Ter
ENST00000240132.7:c.1266del	ENSP00000240132.2:p.Cys422Ter
ENST00000407991.2:c.1311del	ENSP00000385026.1:p.Cys437Ter
ENST00000520600.1:n.290-1378del
ENST00000520933.7:c.1245del	ENSP00000429616.2:p.Cys415Ter
ENST00000523695.5:c.*713del	ENSP00000430612.1:n.*713del
NM_000742.3:c.1311del	NP_000733.2:p.Cys437Ter
NM_001282455.1:c.1266del	NP_001269384.1:p.Cys422Ter
XM_005273397.1:c.834del	XP_005273454.1:p.Cys278Ter
XM_006716282.1:c.1311del	XP_006716345.1:p.Cys437Ter
XM_011544388.1:c.1311del	XP_011542690.1:p.Cys437Ter
XM_011544389.1:c.717del	XP_011542691.1:p.Cys239Ter
NM_001347705.1:c.834del	NP_001334634.1:p.Cys278Ter
NM_001347706.1:c.834del	NP_001334635.1:p.Cys278Ter
NM_001347707.1:c.717del	NP_001334636.1:p.Cys239Ter
NM_001347708.1:c.717del	NP_001334637.1:p.Cys239Ter
XM_011544389.2:c.717del	XP_011542691.1:p.Cys239Ter
NM_000742.4:c.1311del MANE Select	NP_000733.2:p.Cys437Ter
NM_001282455.2:c.1266del	NP_001269384.1:p.Cys422Ter
NM_001347705.2:c.834del	NP_001334634.1:p.Cys278Ter
NM_001347706.2:c.834del	NP_001334635.1:p.Cys278Ter
NM_001347707.2:c.717del	NP_001334636.1:p.Cys239Ter
NM_001347708.2:c.717del	NP_001334637.1:p.Cys239Ter