Canonical Allele Identifier: CA16605474

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 384032
• ClinVar RCV Id: RCV000445342
• dbSNP Id: rs1057521828
• gnomAD v2: 8-27320847-C-A
• gnomAD v4: 8-27463330-C-A
• MyVariant Identifiers: chr8:g.27320847C>A (hg19) ; chr8:g.27463330C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463330C>A , CM000670.2:g.27463330C>A	GRCh38
NC_000008.10:g.27320847C>A , CM000670.1:g.27320847C>A	GRCh37
NC_000008.9:g.27376764C>A	NCBI36
NG_015827.1:g.20967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1113G>T MANE Select	ENSP00000385026.1:p.Leu371=
ENST00000240132.7:c.1068G>T	ENSP00000240132.2:p.Leu356=
ENST00000407991.2:c.1113G>T	ENSP00000385026.1:p.Leu371=
ENST00000520600.1:n.290-1576G>T
ENST00000520933.7:c.1047G>T	ENSP00000429616.2:p.Leu349=
ENST00000523695.5:c.*515G>T	ENSP00000430612.1:n.*515G>T
NM_000742.3:c.1113G>T	NP_000733.2:p.Leu371=
NM_001282455.1:c.1068G>T	NP_001269384.1:p.Leu356=
XM_005273397.1:c.636G>T	XP_005273454.1:p.Leu212=
XM_006716282.1:c.1113G>T	XP_006716345.1:p.Leu371=
XM_011544388.1:c.1113G>T	XP_011542690.1:p.Leu371=
XM_011544389.1:c.519G>T	XP_011542691.1:p.Leu173=
NM_001347705.1:c.636G>T	NP_001334634.1:p.Leu212=
NM_001347706.1:c.636G>T	NP_001334635.1:p.Leu212=
NM_001347707.1:c.519G>T	NP_001334636.1:p.Leu173=
NM_001347708.1:c.519G>T	NP_001334637.1:p.Leu173=
XM_011544389.2:c.519G>T	XP_011542691.1:p.Leu173=
NM_000742.4:c.1113G>T MANE Select	NP_000733.2:p.Leu371=
NM_001282455.2:c.1068G>T	NP_001269384.1:p.Leu356=
NM_001347705.2:c.636G>T	NP_001334634.1:p.Leu212=
NM_001347706.2:c.636G>T	NP_001334635.1:p.Leu212=
NM_001347707.2:c.519G>T	NP_001334636.1:p.Leu173=
NM_001347708.2:c.519G>T	NP_001334637.1:p.Leu173=