Canonical Allele Identifier: CA4689461

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 1102310
• ClinVar RCV Id: RCV001425547 ; RCV001675991
• dbSNP Id: rs373912586
• ExAC: 8:27320529 G / A
• gnomAD v2: 8-27320529-G-A
• gnomAD v3: 8-27463012-G-A
• gnomAD v4: 8-27463012-G-A
• MyVariant Identifiers: chr8:g.27320529G>A (hg19) ; chr8:g.27463012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463012G>A , CM000670.2:g.27463012G>A	GRCh38
NC_000008.10:g.27320529G>A , CM000670.1:g.27320529G>A	GRCh37
NC_000008.9:g.27376446G>A	NCBI36
NG_015827.1:g.21285C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000407991.3:c.1431C>T MANE Select	ENSP00000385026.1:p.Ala477=
ENST00000240132.7:c.1386C>T	ENSP00000240132.2:p.Ala462=
ENST00000407991.2:c.1431C>T	ENSP00000385026.1:p.Ala477=
ENST00000520600.1:n.290-1258C>T
ENST00000520933.7:c.1365C>T	ENSP00000429616.2:p.Ala455=
ENST00000523695.5:c.*833C>T	ENSP00000430612.1:n.*833C>T
NM_000742.3:c.1431C>T	NP_000733.2:p.Ala477=
NM_001282455.1:c.1386C>T	NP_001269384.1:p.Ala462=
XM_005273397.1:c.954C>T	XP_005273454.1:p.Ala318=
XM_006716282.1:c.1431C>T	XP_006716345.1:p.Ala477=
XM_011544388.1:c.1431C>T	XP_011542690.1:p.Ala477=
XM_011544389.1:c.837C>T	XP_011542691.1:p.Ala279=
NM_001347705.1:c.954C>T	NP_001334634.1:p.Ala318=
NM_001347706.1:c.954C>T	NP_001334635.1:p.Ala318=
NM_001347707.1:c.837C>T	NP_001334636.1:p.Ala279=
NM_001347708.1:c.837C>T	NP_001334637.1:p.Ala279=
XM_011544389.2:c.837C>T	XP_011542691.1:p.Ala279=
NM_000742.4:c.1431C>T MANE Select	NP_000733.2:p.Ala477=
NM_001282455.2:c.1386C>T	NP_001269384.1:p.Ala462=
NM_001347705.2:c.954C>T	NP_001334634.1:p.Ala318=
NM_001347706.2:c.954C>T	NP_001334635.1:p.Ala318=
NM_001347707.2:c.837C>T	NP_001334636.1:p.Ala279=
NM_001347708.2:c.837C>T	NP_001334637.1:p.Ala279=