Canonical Allele Identifier: CA2686678220

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463190-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463199_27463201del , CM000670.2:g.27463199_27463201del	GRCh38
NC_000008.10:g.27320716_27320718del , CM000670.1:g.27320716_27320718del	GRCh37
NC_000008.9:g.27376633_27376635del	NCBI36
NG_015827.1:g.21104_21106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1250_1252del MANE Select	ENSP00000385026.1:p.Val417del
ENST00000240132.7:c.1205_1207del	ENSP00000240132.2:p.Val402del
ENST00000407991.2:c.1250_1252del	ENSP00000385026.1:p.Val417del
ENST00000520600.1:n.290-1439_290-1437del
ENST00000520933.7:c.1184_1186del	ENSP00000429616.2:p.Val395del
ENST00000523695.5:c.*652_*654del	ENSP00000430612.1:n.*652_*654del
NM_000742.3:c.1250_1252del	NP_000733.2:p.Val417del
NM_001282455.1:c.1205_1207del	NP_001269384.1:p.Val402del
XM_005273397.1:c.773_775del	XP_005273454.1:p.Val258del
XM_006716282.1:c.1250_1252del	XP_006716345.1:p.Val417del
XM_011544388.1:c.1250_1252del	XP_011542690.1:p.Val417del
XM_011544389.1:c.656_658del	XP_011542691.1:p.Val219del
NM_001347705.1:c.773_775del	NP_001334634.1:p.Val258del
NM_001347706.1:c.773_775del	NP_001334635.1:p.Val258del
NM_001347707.1:c.656_658del	NP_001334636.1:p.Val219del
NM_001347708.1:c.656_658del	NP_001334637.1:p.Val219del
XM_011544389.2:c.656_658del	XP_011542691.1:p.Val219del
NM_000742.4:c.1250_1252del MANE Select	NP_000733.2:p.Val417del
NM_001282455.2:c.1205_1207del	NP_001269384.1:p.Val402del
NM_001347705.2:c.773_775del	NP_001334634.1:p.Val258del
NM_001347706.2:c.773_775del	NP_001334635.1:p.Val258del
NM_001347707.2:c.656_658del	NP_001334636.1:p.Val219del
NM_001347708.2:c.656_658del	NP_001334637.1:p.Val219del