Canonical Allele Identifier: CA313470

Gene: CHRNA2

Linked Data

• ClinVar Variation Id: 204974
• ClinVar RCV Id: RCV000186880 ; RCV001302695
• dbSNP Id: rs796052304
• gnomAD v4: 8-27463017-T-G
• MyVariant Identifiers: chr8:g.27320534T>G (hg19) ; chr8:g.27463017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463017T>G , CM000670.2:g.27463017T>G	GRCh38
NC_000008.10:g.27320534T>G , CM000670.1:g.27320534T>G	GRCh37
NC_000008.9:g.27376451T>G	NCBI36
NG_015827.1:g.21280A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000407991.3:c.1426A>C MANE Select	ENSP00000385026.1:p.Ile476Leu
ENST00000240132.7:c.1381A>C	ENSP00000240132.2:p.Ile461Leu
ENST00000407991.2:c.1426A>C	ENSP00000385026.1:p.Ile476Leu
ENST00000520600.1:n.290-1263A>C
ENST00000520933.7:c.1360A>C	ENSP00000429616.2:p.Ile454Leu
ENST00000523695.5:c.*828A>C	ENSP00000430612.1:n.*828A>C
NM_000742.3:c.1426A>C	NP_000733.2:p.Ile476Leu
NM_001282455.1:c.1381A>C	NP_001269384.1:p.Ile461Leu
XM_005273397.1:c.949A>C	XP_005273454.1:p.Ile317Leu
XM_006716282.1:c.1426A>C	XP_006716345.1:p.Ile476Leu
XM_011544388.1:c.1426A>C	XP_011542690.1:p.Ile476Leu
XM_011544389.1:c.832A>C	XP_011542691.1:p.Ile278Leu
NM_001347705.1:c.949A>C	NP_001334634.1:p.Ile317Leu
NM_001347706.1:c.949A>C	NP_001334635.1:p.Ile317Leu
NM_001347707.1:c.832A>C	NP_001334636.1:p.Ile278Leu
NM_001347708.1:c.832A>C	NP_001334637.1:p.Ile278Leu
XM_011544389.2:c.832A>C	XP_011542691.1:p.Ile278Leu
NM_000742.4:c.1426A>C MANE Select	NP_000733.2:p.Ile476Leu
NM_001282455.2:c.1381A>C	NP_001269384.1:p.Ile461Leu
NM_001347705.2:c.949A>C	NP_001334634.1:p.Ile317Leu
NM_001347706.2:c.949A>C	NP_001334635.1:p.Ile317Leu
NM_001347707.2:c.832A>C	NP_001334636.1:p.Ile278Leu
NM_001347708.2:c.832A>C	NP_001334637.1:p.Ile278Leu