Canonical Allele Identifier: CA4689503

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 1043860
• ClinVar RCV Id: RCV001348024
• dbSNP Id: rs370964466
• ExAC: 8:27320758 T / C
• gnomAD v2: 8-27320758-T-C
• gnomAD v3: 8-27463241-T-C
• gnomAD v4: 8-27463241-T-C
• MyVariant Identifiers: chr8:g.27320758T>C (hg19) ; chr8:g.27463241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463241T>C , CM000670.2:g.27463241T>C	GRCh38
NC_000008.10:g.27320758T>C , CM000670.1:g.27320758T>C	GRCh37
NC_000008.9:g.27376675T>C	NCBI36
NG_015827.1:g.21056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1202A>G MANE Select	ENSP00000385026.1:p.Tyr401Cys
ENST00000240132.7:c.1157A>G	ENSP00000240132.2:p.Tyr386Cys
ENST00000407991.2:c.1202A>G	ENSP00000385026.1:p.Tyr401Cys
ENST00000520600.1:n.290-1487A>G
ENST00000520933.7:c.1136A>G	ENSP00000429616.2:p.Tyr379Cys
ENST00000523695.5:c.*604A>G	ENSP00000430612.1:n.*604A>G
NM_000742.3:c.1202A>G	NP_000733.2:p.Tyr401Cys
NM_001282455.1:c.1157A>G	NP_001269384.1:p.Tyr386Cys
XM_005273397.1:c.725A>G	XP_005273454.1:p.Tyr242Cys
XM_006716282.1:c.1202A>G	XP_006716345.1:p.Tyr401Cys
XM_011544388.1:c.1202A>G	XP_011542690.1:p.Tyr401Cys
XM_011544389.1:c.608A>G	XP_011542691.1:p.Tyr203Cys
NM_001347705.1:c.725A>G	NP_001334634.1:p.Tyr242Cys
NM_001347706.1:c.725A>G	NP_001334635.1:p.Tyr242Cys
NM_001347707.1:c.608A>G	NP_001334636.1:p.Tyr203Cys
NM_001347708.1:c.608A>G	NP_001334637.1:p.Tyr203Cys
XM_011544389.2:c.608A>G	XP_011542691.1:p.Tyr203Cys
NM_000742.4:c.1202A>G MANE Select	NP_000733.2:p.Tyr401Cys
NM_001282455.2:c.1157A>G	NP_001269384.1:p.Tyr386Cys
NM_001347705.2:c.725A>G	NP_001334634.1:p.Tyr242Cys
NM_001347706.2:c.725A>G	NP_001334635.1:p.Tyr242Cys
NM_001347707.2:c.608A>G	NP_001334636.1:p.Tyr203Cys
NM_001347708.2:c.608A>G	NP_001334637.1:p.Tyr203Cys