Canonical Allele Identifier: CA4689498

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 2809701
• ClinVar RCV Id: RCV003746959
• dbSNP Id: rs367771198
• ExAC: 8:27320739 G / A
• gnomAD v2: 8-27320739-G-A
• gnomAD v4: 8-27463222-G-A
• MyVariant Identifiers: chr8:g.27320739G>A (hg19) ; chr8:g.27463222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463222G>A , CM000670.2:g.27463222G>A	GRCh38
NC_000008.10:g.27320739G>A , CM000670.1:g.27320739G>A	GRCh37
NC_000008.9:g.27376656G>A	NCBI36
NG_015827.1:g.21075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1221C>T MANE Select	ENSP00000385026.1:p.Asn407=
ENST00000240132.7:c.1176C>T	ENSP00000240132.2:p.Asn392=
ENST00000407991.2:c.1221C>T	ENSP00000385026.1:p.Asn407=
ENST00000520600.1:n.290-1468C>T
ENST00000520933.7:c.1155C>T	ENSP00000429616.2:p.Asn385=
ENST00000523695.5:c.*623C>T	ENSP00000430612.1:n.*623C>T
NM_000742.3:c.1221C>T	NP_000733.2:p.Asn407=
NM_001282455.1:c.1176C>T	NP_001269384.1:p.Asn392=
XM_005273397.1:c.744C>T	XP_005273454.1:p.Asn248=
XM_006716282.1:c.1221C>T	XP_006716345.1:p.Asn407=
XM_011544388.1:c.1221C>T	XP_011542690.1:p.Asn407=
XM_011544389.1:c.627C>T	XP_011542691.1:p.Asn209=
NM_001347705.1:c.744C>T	NP_001334634.1:p.Asn248=
NM_001347706.1:c.744C>T	NP_001334635.1:p.Asn248=
NM_001347707.1:c.627C>T	NP_001334636.1:p.Asn209=
NM_001347708.1:c.627C>T	NP_001334637.1:p.Asn209=
XM_011544389.2:c.627C>T	XP_011542691.1:p.Asn209=
NM_000742.4:c.1221C>T MANE Select	NP_000733.2:p.Asn407=
NM_001282455.2:c.1176C>T	NP_001269384.1:p.Asn392=
NM_001347705.2:c.744C>T	NP_001334634.1:p.Asn248=
NM_001347706.2:c.744C>T	NP_001334635.1:p.Asn248=
NM_001347707.2:c.627C>T	NP_001334636.1:p.Asn209=
NM_001347708.2:c.627C>T	NP_001334637.1:p.Asn209=