Canonical Allele Identifier: CA2686678214

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463023-GCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463025_27463028del , CM000670.2:g.27463025_27463028del	GRCh38
NC_000008.10:g.27320542_27320545del , CM000670.1:g.27320542_27320545del	GRCh37
NC_000008.9:g.27376459_27376462del	NCBI36
NG_015827.1:g.21270_21273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1416_1419del MANE Select	ENSP00000385026.1:p.Val473ThrfsTer16
ENST00000240132.7:c.1371_1374del	ENSP00000240132.2:p.Val458ThrfsTer16
ENST00000407991.2:c.1416_1419del	ENSP00000385026.1:p.Val473ThrfsTer16
ENST00000520600.1:n.290-1273_290-1270del
ENST00000520933.7:c.1350_1353del	ENSP00000429616.2:p.Val451ThrfsTer16
ENST00000523695.5:c.*818_*821del	ENSP00000430612.1:n.*818_*821del
NM_000742.3:c.1416_1419del	NP_000733.2:p.Val473ThrfsTer16
NM_001282455.1:c.1371_1374del	NP_001269384.1:p.Val458ThrfsTer16
XM_005273397.1:c.939_942del	XP_005273454.1:p.Val314ThrfsTer16
XM_006716282.1:c.1416_1419del	XP_006716345.1:p.Val473ThrfsTer16
XM_011544388.1:c.1416_1419del	XP_011542690.1:p.Val473ThrfsTer16
XM_011544389.1:c.822_825del	XP_011542691.1:p.Val275ThrfsTer16
NM_001347705.1:c.939_942del	NP_001334634.1:p.Val314ThrfsTer16
NM_001347706.1:c.939_942del	NP_001334635.1:p.Val314ThrfsTer16
NM_001347707.1:c.822_825del	NP_001334636.1:p.Val275ThrfsTer16
NM_001347708.1:c.822_825del	NP_001334637.1:p.Val275ThrfsTer16
XM_011544389.2:c.822_825del	XP_011542691.1:p.Val275ThrfsTer16
NM_000742.4:c.1416_1419del MANE Select	NP_000733.2:p.Val473ThrfsTer16
NM_001282455.2:c.1371_1374del	NP_001269384.1:p.Val458ThrfsTer16
NM_001347705.2:c.939_942del	NP_001334634.1:p.Val314ThrfsTer16
NM_001347706.2:c.939_942del	NP_001334635.1:p.Val314ThrfsTer16
NM_001347707.2:c.822_825del	NP_001334636.1:p.Val275ThrfsTer16
NM_001347708.2:c.822_825del	NP_001334637.1:p.Val275ThrfsTer16