Canonical Allele Identifier: CA370809435

Gene: CHRNA2

Linked Data

• MyVariant Identifiers: chr8:g.27320841A>C (hg19) ; chr8:g.27463324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463324A>C , CM000670.2:g.27463324A>C	GRCh38
NC_000008.10:g.27320841A>C , CM000670.1:g.27320841A>C	GRCh37
NC_000008.9:g.27376758A>C	NCBI36
NG_015827.1:g.20973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1119T>G MANE Select	ENSP00000385026.1:p.Cys373Trp
ENST00000240132.7:c.1074T>G	ENSP00000240132.2:p.Cys358Trp
ENST00000407991.2:c.1119T>G	ENSP00000385026.1:p.Cys373Trp
ENST00000520600.1:n.290-1570T>G
ENST00000520933.7:c.1053T>G	ENSP00000429616.2:p.Cys351Trp
ENST00000523695.5:c.*521T>G	ENSP00000430612.1:n.*521T>G
NM_000742.3:c.1119T>G	NP_000733.2:p.Cys373Trp
NM_001282455.1:c.1074T>G	NP_001269384.1:p.Cys358Trp
XM_005273397.1:c.642T>G	XP_005273454.1:p.Cys214Trp
XM_006716282.1:c.1119T>G	XP_006716345.1:p.Cys373Trp
XM_011544388.1:c.1119T>G	XP_011542690.1:p.Cys373Trp
XM_011544389.1:c.525T>G	XP_011542691.1:p.Cys175Trp
NM_001347705.1:c.642T>G	NP_001334634.1:p.Cys214Trp
NM_001347706.1:c.642T>G	NP_001334635.1:p.Cys214Trp
NM_001347707.1:c.525T>G	NP_001334636.1:p.Cys175Trp
NM_001347708.1:c.525T>G	NP_001334637.1:p.Cys175Trp
XM_011544389.2:c.525T>G	XP_011542691.1:p.Cys175Trp
NM_000742.4:c.1119T>G MANE Select	NP_000733.2:p.Cys373Trp
NM_001282455.2:c.1074T>G	NP_001269384.1:p.Cys358Trp
NM_001347705.2:c.642T>G	NP_001334634.1:p.Cys214Trp
NM_001347706.2:c.642T>G	NP_001334635.1:p.Cys214Trp
NM_001347707.2:c.525T>G	NP_001334636.1:p.Cys175Trp
NM_001347708.2:c.525T>G	NP_001334637.1:p.Cys175Trp