Canonical Allele Identifier: CA460186473
Gene: CHRNA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27320838C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463321C>G , CM000670.2:g.27463321C>G GRCh38
NC_000008.10:g.27320838C>G , CM000670.1:g.27320838C>G GRCh37
NC_000008.9:g.27376755C>G NCBI36
NG_015827.1:g.20976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1122G>C MANE Select ENSP00000385026.1:p.Val374=
ENST00000240132.7:c.1077G>C ENSP00000240132.2:p.Val359=
ENST00000407991.2:c.1122G>C ENSP00000385026.1:p.Val374=
ENST00000520600.1:n.290-1567G>C
ENST00000520933.7:c.1056G>C ENSP00000429616.2:p.Val352=
ENST00000523695.5:c.*524G>C ENSP00000430612.1:n.*524G>C
NM_000742.3:c.1122G>C NP_000733.2:p.Val374=
NM_001282455.1:c.1077G>C NP_001269384.1:p.Val359=
XM_005273397.1:c.645G>C XP_005273454.1:p.Val215=
XM_006716282.1:c.1122G>C XP_006716345.1:p.Val374=
XM_011544388.1:c.1122G>C XP_011542690.1:p.Val374=
XM_011544389.1:c.528G>C XP_011542691.1:p.Val176=
NM_001347705.1:c.645G>C NP_001334634.1:p.Val215=
NM_001347706.1:c.645G>C NP_001334635.1:p.Val215=
NM_001347707.1:c.528G>C NP_001334636.1:p.Val176=
NM_001347708.1:c.528G>C NP_001334637.1:p.Val176=
XM_011544389.2:c.528G>C XP_011542691.1:p.Val176=
NM_000742.4:c.1122G>C MANE Select NP_000733.2:p.Val374=
NM_001282455.2:c.1077G>C NP_001269384.1:p.Val359=
NM_001347705.2:c.645G>C NP_001334634.1:p.Val215=
NM_001347706.2:c.645G>C NP_001334635.1:p.Val215=
NM_001347707.2:c.528G>C NP_001334636.1:p.Val176=
NM_001347708.2:c.528G>C NP_001334637.1:p.Val176=