Canonical Allele Identifier: CA580954954

Gene: CHRNA2

Linked Data

• dbSNP Id: rs1563317589
• gnomAD v2: 8-27320785-G-GGTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTC
• MyVariant Identifiers: chr8:g.27320785_27320786insGTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTC (hg19) ; chr8:g.27463268_27463269insGTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463269_27463270insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG , CM000670.2:g.27463269_27463270insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG	GRCh38
NC_000008.10:g.27320786_27320787insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG , CM000670.1:g.27320786_27320787insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG	GRCh37
NC_000008.9:g.27376703_27376704insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG	NCBI36
NG_015827.1:g.21028_21029insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC MANE Select	ENSP00000385026.1:p.Pro392ArgfsTer5
ENST00000240132.7:c.1129_1130insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	ENSP00000240132.2:p.Pro377ArgfsTer5
ENST00000407991.2:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	ENSP00000385026.1:p.Pro392ArgfsTer5
ENST00000520600.1:n.290-1515_290-1514insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC
ENST00000520933.7:c.1108_1109insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	ENSP00000429616.2:p.Pro370ArgfsTer5
ENST00000523695.5:c.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	ENSP00000430612.1:n.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCA...
NM_000742.3:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_000733.2:p.Pro392ArgfsTer5
NM_001282455.1:c.1129_1130insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001269384.1:p.Pro377ArgfsTer5
XM_005273397.1:c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	XP_005273454.1:p.Pro233ArgfsTer5
XM_006716282.1:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	XP_006716345.1:p.Pro392ArgfsTer5
XM_011544388.1:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	XP_011542690.1:p.Pro392ArgfsTer5
XM_011544389.1:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	XP_011542691.1:p.Pro194ArgfsTer5
NM_001347705.1:c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334634.1:p.Pro233ArgfsTer5
NM_001347706.1:c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334635.1:p.Pro233ArgfsTer5
NM_001347707.1:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334636.1:p.Pro194ArgfsTer5
NM_001347708.1:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334637.1:p.Pro194ArgfsTer5
XM_011544389.2:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	XP_011542691.1:p.Pro194ArgfsTer5
NM_000742.4:c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC MANE Select	NP_000733.2:p.Pro392ArgfsTer5
NM_001282455.2:c.1129_1130insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001269384.1:p.Pro377ArgfsTer5
NM_001347705.2:c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334634.1:p.Pro233ArgfsTer5
NM_001347706.2:c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334635.1:p.Pro233ArgfsTer5
NM_001347707.2:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334636.1:p.Pro194ArgfsTer5
NM_001347708.2:c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC	NP_001334637.1:p.Pro194ArgfsTer5