Canonical Allele Identifier: CA370809270

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463266-G-C
• MyVariant Identifiers: chr8:g.27320783G>C (hg19) ; chr8:g.27463266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463266G>C , CM000670.2:g.27463266G>C	GRCh38
NC_000008.10:g.27320783G>C , CM000670.1:g.27320783G>C	GRCh37
NC_000008.9:g.27376700G>C	NCBI36
NG_015827.1:g.21031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1177C>G MANE Select	ENSP00000385026.1:p.Leu393Val
ENST00000240132.7:c.1132C>G	ENSP00000240132.2:p.Leu378Val
ENST00000407991.2:c.1177C>G	ENSP00000385026.1:p.Leu393Val
ENST00000520600.1:n.290-1512C>G
ENST00000520933.7:c.1111C>G	ENSP00000429616.2:p.Leu371Val
ENST00000523695.5:c.*579C>G	ENSP00000430612.1:n.*579C>G
NM_000742.3:c.1177C>G	NP_000733.2:p.Leu393Val
NM_001282455.1:c.1132C>G	NP_001269384.1:p.Leu378Val
XM_005273397.1:c.700C>G	XP_005273454.1:p.Leu234Val
XM_006716282.1:c.1177C>G	XP_006716345.1:p.Leu393Val
XM_011544388.1:c.1177C>G	XP_011542690.1:p.Leu393Val
XM_011544389.1:c.583C>G	XP_011542691.1:p.Leu195Val
NM_001347705.1:c.700C>G	NP_001334634.1:p.Leu234Val
NM_001347706.1:c.700C>G	NP_001334635.1:p.Leu234Val
NM_001347707.1:c.583C>G	NP_001334636.1:p.Leu195Val
NM_001347708.1:c.583C>G	NP_001334637.1:p.Leu195Val
XM_011544389.2:c.583C>G	XP_011542691.1:p.Leu195Val
NM_000742.4:c.1177C>G MANE Select	NP_000733.2:p.Leu393Val
NM_001282455.2:c.1132C>G	NP_001269384.1:p.Leu378Val
NM_001347705.2:c.700C>G	NP_001334634.1:p.Leu234Val
NM_001347706.2:c.700C>G	NP_001334635.1:p.Leu234Val
NM_001347707.2:c.583C>G	NP_001334636.1:p.Leu195Val
NM_001347708.2:c.583C>G	NP_001334637.1:p.Leu195Val