Canonical Allele Identifier: CA370807881

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 947249
• ClinVar RCV Id: RCV001218279
• dbSNP Id: rs1165713402
• gnomAD v2: 8-27320545-C-T
• MyVariant Identifiers: chr8:g.27320545C>T (hg19) ; chr8:g.27463028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463028C>T , CM000670.2:g.27463028C>T	GRCh38
NC_000008.10:g.27320545C>T , CM000670.1:g.27320545C>T	GRCh37
NC_000008.9:g.27376462C>T	NCBI36
NG_015827.1:g.21269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1415G>A MANE Select	ENSP00000385026.1:p.Gly472Asp
ENST00000240132.7:c.1370G>A	ENSP00000240132.2:p.Gly457Asp
ENST00000407991.2:c.1415G>A	ENSP00000385026.1:p.Gly472Asp
ENST00000520600.1:n.290-1274G>A
ENST00000520933.7:c.1349G>A	ENSP00000429616.2:p.Gly450Asp
ENST00000523695.5:c.*817G>A	ENSP00000430612.1:n.*817G>A
NM_000742.3:c.1415G>A	NP_000733.2:p.Gly472Asp
NM_001282455.1:c.1370G>A	NP_001269384.1:p.Gly457Asp
XM_005273397.1:c.938G>A	XP_005273454.1:p.Gly313Asp
XM_006716282.1:c.1415G>A	XP_006716345.1:p.Gly472Asp
XM_011544388.1:c.1415G>A	XP_011542690.1:p.Gly472Asp
XM_011544389.1:c.821G>A	XP_011542691.1:p.Gly274Asp
NM_001347705.1:c.938G>A	NP_001334634.1:p.Gly313Asp
NM_001347706.1:c.938G>A	NP_001334635.1:p.Gly313Asp
NM_001347707.1:c.821G>A	NP_001334636.1:p.Gly274Asp
NM_001347708.1:c.821G>A	NP_001334637.1:p.Gly274Asp
XM_011544389.2:c.821G>A	XP_011542691.1:p.Gly274Asp
NM_000742.4:c.1415G>A MANE Select	NP_000733.2:p.Gly472Asp
NM_001282455.2:c.1370G>A	NP_001269384.1:p.Gly457Asp
NM_001347705.2:c.938G>A	NP_001334634.1:p.Gly313Asp
NM_001347706.2:c.938G>A	NP_001334635.1:p.Gly313Asp
NM_001347707.2:c.821G>A	NP_001334636.1:p.Gly274Asp
NM_001347708.2:c.821G>A	NP_001334637.1:p.Gly274Asp