Canonical Allele Identifier: CA341466

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 17504
• ClinVar RCV Id: RCV000019056
• dbSNP Id: rs104894063
• MyVariant Identifiers: chr8:g.27321124A>T (hg19) ; chr8:g.27463607A>T (hg38)
• PubMed: PMID:16826524 ; PMID:20301348

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463607A>T , CM000670.2:g.27463607A>T	GRCh38
NC_000008.10:g.27321124A>T , CM000670.1:g.27321124A>T	GRCh37
NC_000008.9:g.27377041A>T	NCBI36
NG_015827.1:g.20690T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.836T>A MANE Select	ENSP00000385026.1:p.Ile279Asn
ENST00000637241.1:c.*666T>A	ENSP00000490690.1:n.*666T>A
ENST00000240132.7:c.791T>A	ENSP00000240132.2:p.Ile264Asn
ENST00000407991.2:c.836T>A	ENSP00000385026.1:p.Ile279Asn
ENST00000520600.1:n.290-1853T>A
ENST00000520933.7:c.770T>A	ENSP00000429616.2:p.Ile257Asn
ENST00000523695.5:c.*238T>A	ENSP00000430612.1:n.*238T>A
NM_000742.3:c.836T>A	NP_000733.2:p.Ile279Asn
NM_001282455.1:c.791T>A	NP_001269384.1:p.Ile264Asn
XM_005273397.1:c.359T>A	XP_005273454.1:p.Ile120Asn
XM_006716282.1:c.836T>A	XP_006716345.1:p.Ile279Asn
XM_011544388.1:c.836T>A	XP_011542690.1:p.Ile279Asn
XM_011544389.1:c.242T>A	XP_011542691.1:p.Ile81Asn
NM_001347705.1:c.359T>A	NP_001334634.1:p.Ile120Asn
NM_001347706.1:c.359T>A	NP_001334635.1:p.Ile120Asn
NM_001347707.1:c.242T>A	NP_001334636.1:p.Ile81Asn
NM_001347708.1:c.242T>A	NP_001334637.1:p.Ile81Asn
XM_011544389.2:c.242T>A	XP_011542691.1:p.Ile81Asn
NM_000742.4:c.836T>A MANE Select	NP_000733.2:p.Ile279Asn
NM_001282455.2:c.791T>A	NP_001269384.1:p.Ile264Asn
NM_001347705.2:c.359T>A	NP_001334634.1:p.Ile120Asn
NM_001347706.2:c.359T>A	NP_001334635.1:p.Ile120Asn
NM_001347707.2:c.242T>A	NP_001334636.1:p.Ile81Asn
NM_001347708.2:c.242T>A	NP_001334637.1:p.Ile81Asn