Canonical Allele Identifier: CA370808890

Gene: CHRNA2

Linked Data

• MyVariant Identifiers: chr8:g.27320636G>T (hg19) ; chr8:g.27463119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463119G>T , CM000670.2:g.27463119G>T	GRCh38
NC_000008.10:g.27320636G>T , CM000670.1:g.27320636G>T	GRCh37
NC_000008.9:g.27376553G>T	NCBI36
NG_015827.1:g.21178C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000407991.3:c.1324C>A MANE Select	ENSP00000385026.1:p.Leu442Met
ENST00000240132.7:c.1279C>A	ENSP00000240132.2:p.Leu427Met
ENST00000407991.2:c.1324C>A	ENSP00000385026.1:p.Leu442Met
ENST00000520600.1:n.290-1365C>A
ENST00000520933.7:c.1258C>A	ENSP00000429616.2:p.Leu420Met
ENST00000523695.5:c.*726C>A	ENSP00000430612.1:n.*726C>A
NM_000742.3:c.1324C>A	NP_000733.2:p.Leu442Met
NM_001282455.1:c.1279C>A	NP_001269384.1:p.Leu427Met
XM_005273397.1:c.847C>A	XP_005273454.1:p.Leu283Met
XM_006716282.1:c.1324C>A	XP_006716345.1:p.Leu442Met
XM_011544388.1:c.1324C>A	XP_011542690.1:p.Leu442Met
XM_011544389.1:c.730C>A	XP_011542691.1:p.Leu244Met
NM_001347705.1:c.847C>A	NP_001334634.1:p.Leu283Met
NM_001347706.1:c.847C>A	NP_001334635.1:p.Leu283Met
NM_001347707.1:c.730C>A	NP_001334636.1:p.Leu244Met
NM_001347708.1:c.730C>A	NP_001334637.1:p.Leu244Met
XM_011544389.2:c.730C>A	XP_011542691.1:p.Leu244Met
NM_000742.4:c.1324C>A MANE Select	NP_000733.2:p.Leu442Met
NM_001282455.2:c.1279C>A	NP_001269384.1:p.Leu427Met
NM_001347705.2:c.847C>A	NP_001334634.1:p.Leu283Met
NM_001347706.2:c.847C>A	NP_001334635.1:p.Leu283Met
NM_001347707.2:c.730C>A	NP_001334636.1:p.Leu244Met
NM_001347708.2:c.730C>A	NP_001334637.1:p.Leu244Met