Canonical Allele Identifier: CA10625285

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 362710
• ClinVar RCV Id: RCV000364936
• dbSNP Id: rs886062850
• gnomAD v3: 8-27479158-C-T
• gnomAD v4: 8-27479158-C-T
• MyVariant Identifiers: chr8:g.27336675C>T (hg19) ; chr8:g.27479158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27479158C>T , CM000670.2:g.27479158C>T	GRCh38
NC_000008.10:g.27336675C>T , CM000670.1:g.27336675C>T	GRCh37
NC_000008.9:g.27392592C>T	NCBI36
NG_015827.1:g.5139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.-471G>A MANE Select	ENSP00000385026.1:n.-471G>A
ENST00000637241.1:c.-471G>A	ENSP00000490690.1:n.-471G>A
ENST00000407991.2:c.-471G>A	ENSP00000385026.1:n.-471G>A
ENST00000520208.1:c.-432-99G>A	ENSP00000430994.1:n.-432-99G>A
ENST00000520650.2:n.134G>A
ENST00000523695.5:c.-471G>A	ENSP00000430612.1:n.-471G>A
ENST00000524096.5:c.-137+611G>A	ENSP00000430422.1:n.-137+611G>A
NM_000742.3:c.-471G>A	NP_000733.2:n.-471G>A
NM_001282455.1:c.-471G>A	NP_001269384.1:n.-471G>A
XM_011544389.1:c.-929G>A	XP_011542691.1:n.-929G>A
NM_001347705.1:c.-898G>A	NP_001334634.1:n.-898G>A
NM_001347706.1:c.-943G>A	NP_001334635.1:n.-943G>A
NM_001347707.1:c.-944G>A	NP_001334636.1:n.-944G>A
NM_001347708.1:c.-932G>A	NP_001334637.1:n.-932G>A
XM_011544389.2:c.-929G>A	XP_011542691.1:n.-929G>A
NM_000742.4:c.-471G>A MANE Select	NP_000733.2:n.-471G>A
NM_001282455.2:c.-471G>A	NP_001269384.1:n.-471G>A
NM_001347705.2:c.-898G>A	NP_001334634.1:n.-898G>A
NM_001347706.2:c.-943G>A	NP_001334635.1:n.-943G>A
NM_001347707.2:c.-944G>A	NP_001334636.1:n.-944G>A
NM_001347708.2:c.-932G>A	NP_001334637.1:n.-932G>A