Canonical Allele Identifier: CA580954916

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 502426
• ClinVar RCV Id: RCV000592613
• dbSNP Id: rs1468008473
• gnomAD v2: 8-27320697-GTCC-G
• gnomAD v3: 8-27463180-GTCC-G
• gnomAD v4: 8-27463180-GTCC-G
• MyVariant Identifiers: chr8:g.27320698_27320700del (hg19) ; chr8:g.27463181_27463183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463190_27463192del , CM000670.2:g.27463190_27463192del	GRCh38
NC_000008.10:g.27320707_27320709del , CM000670.1:g.27320707_27320709del	GRCh37
NC_000008.9:g.27376624_27376626del	NCBI36
NG_015827.1:g.21114_21116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1260_1262del MANE Select	ENSP00000385026.1:p.Glu420del
ENST00000240132.7:c.1215_1217del	ENSP00000240132.2:p.Glu405del
ENST00000407991.2:c.1260_1262del	ENSP00000385026.1:p.Glu420del
ENST00000520600.1:n.290-1429_290-1427del
ENST00000520933.7:c.1194_1196del	ENSP00000429616.2:p.Glu398del
ENST00000523695.5:c.*662_*664del	ENSP00000430612.1:n.*662_*664del
NM_000742.3:c.1260_1262del	NP_000733.2:p.Glu420del
NM_001282455.1:c.1215_1217del	NP_001269384.1:p.Glu405del
XM_005273397.1:c.783_785del	XP_005273454.1:p.Glu261del
XM_006716282.1:c.1260_1262del	XP_006716345.1:p.Glu420del
XM_011544388.1:c.1260_1262del	XP_011542690.1:p.Glu420del
XM_011544389.1:c.666_668del	XP_011542691.1:p.Glu222del
NM_001347705.1:c.783_785del	NP_001334634.1:p.Glu261del
NM_001347706.1:c.783_785del	NP_001334635.1:p.Glu261del
NM_001347707.1:c.666_668del	NP_001334636.1:p.Glu222del
NM_001347708.1:c.666_668del	NP_001334637.1:p.Glu222del
XM_011544389.2:c.666_668del	XP_011542691.1:p.Glu222del
NM_000742.4:c.1260_1262del MANE Select	NP_000733.2:p.Glu420del
NM_001282455.2:c.1215_1217del	NP_001269384.1:p.Glu405del
NM_001347705.2:c.783_785del	NP_001334634.1:p.Glu261del
NM_001347706.2:c.783_785del	NP_001334635.1:p.Glu261del
NM_001347707.2:c.666_668del	NP_001334636.1:p.Glu222del
NM_001347708.2:c.666_668del	NP_001334637.1:p.Glu222del