Canonical Allele Identifier: CA4689524

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 543528
• ClinVar RCV Id: RCV000654318 ; RCV002440383 ; RCV003488769
• dbSNP Id: rs137965290
• ExAC: 8:27320843 A / G
• gnomAD v2: 8-27320843-A-G
• gnomAD v3: 8-27463326-A-G
• gnomAD v4: 8-27463326-A-G
• MyVariant Identifiers: chr8:g.27320843A>G (hg19) ; chr8:g.27463326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463326A>G , CM000670.2:g.27463326A>G	GRCh38
NC_000008.10:g.27320843A>G , CM000670.1:g.27320843A>G	GRCh37
NC_000008.9:g.27376760A>G	NCBI36
NG_015827.1:g.20971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1117T>C MANE Select	ENSP00000385026.1:p.Cys373Arg
ENST00000240132.7:c.1072T>C	ENSP00000240132.2:p.Cys358Arg
ENST00000407991.2:c.1117T>C	ENSP00000385026.1:p.Cys373Arg
ENST00000520600.1:n.290-1572T>C
ENST00000520933.7:c.1051T>C	ENSP00000429616.2:p.Cys351Arg
ENST00000523695.5:c.*519T>C	ENSP00000430612.1:n.*519T>C
NM_000742.3:c.1117T>C	NP_000733.2:p.Cys373Arg
NM_001282455.1:c.1072T>C	NP_001269384.1:p.Cys358Arg
XM_005273397.1:c.640T>C	XP_005273454.1:p.Cys214Arg
XM_006716282.1:c.1117T>C	XP_006716345.1:p.Cys373Arg
XM_011544388.1:c.1117T>C	XP_011542690.1:p.Cys373Arg
XM_011544389.1:c.523T>C	XP_011542691.1:p.Cys175Arg
NM_001347705.1:c.640T>C	NP_001334634.1:p.Cys214Arg
NM_001347706.1:c.640T>C	NP_001334635.1:p.Cys214Arg
NM_001347707.1:c.523T>C	NP_001334636.1:p.Cys175Arg
NM_001347708.1:c.523T>C	NP_001334637.1:p.Cys175Arg
XM_011544389.2:c.523T>C	XP_011542691.1:p.Cys175Arg
NM_000742.4:c.1117T>C MANE Select	NP_000733.2:p.Cys373Arg
NM_001282455.2:c.1072T>C	NP_001269384.1:p.Cys358Arg
NM_001347705.2:c.640T>C	NP_001334634.1:p.Cys214Arg
NM_001347706.2:c.640T>C	NP_001334635.1:p.Cys214Arg
NM_001347707.2:c.523T>C	NP_001334636.1:p.Cys175Arg
NM_001347708.2:c.523T>C	NP_001334637.1:p.Cys175Arg