Canonical Allele Identifier: CA1351047
Gene: CNTN2 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205058609G>A , CM000663.2:g.205058609G>A GRCh38
NC_000001.10:g.205027737G>A , CM000663.1:g.205027737G>A GRCh37
NC_000001.9:g.203294360G>A NCBI36
NG_033845.1:g.20398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331830.7:c.433G>A MANE Select ENSP00000330633.4:p.Ala145Thr
ENST00000532366.2:c.*1020G>A ENSP00000491665.1:n.*1020G>A
ENST00000636809.2:n.932G>A
ENST00000638378.1:c.433G>A ENSP00000492617.1:p.Ala145Thr
ENST00000638928.1:n.179G>A
ENST00000639015.1:n.263G>A
ENST00000639023.1:n.124G>A
ENST00000639302.1:c.433G>A ENSP00000491671.1:p.Ala145Thr
ENST00000639971.1:c.433G>A ENSP00000491959.1:p.Ala145Thr
ENST00000640326.1:c.433G>A ENSP00000492495.1:p.Ala145Thr
ENST00000640352.1:c.*1231G>A ENSP00000491080.1:n.*1231G>A
ENST00000640428.1:c.433G>A ENSP00000491474.1:p.Ala145Thr
ENST00000331830.4:c.433G>A ENSP00000330633.4:p.Ala145Thr
ENST00000481872.6:n.5G>A
ENST00000530117.5:n.227G>A
NM_005076.3:c.433G>A NP_005067.1:p.Ala145Thr
XM_011509925.1:c.418G>A XP_011508227.1:p.Ala140Thr
NM_001346083.1:c.433G>A NP_001333012.1:p.Ala145Thr
NM_005076.4:c.433G>A NP_005067.1:p.Ala145Thr
NR_144350.1:n.790G>A
XM_017002198.1:c.433G>A XP_016857687.1:p.Ala145Thr
XM_017002199.2:c.418G>A XP_016857688.1:p.Ala140Thr
XM_024449386.1:c.472G>A XP_024305154.1:p.Ala158Thr
XM_024449387.1:c.106G>A XP_024305155.1:p.Ala36Thr
XM_024449388.1:c.106G>A XP_024305156.1:p.Ala36Thr
XM_024449389.1:c.472G>A XP_024305157.1:p.Ala158Thr
NM_005076.5:c.433G>A MANE Select NP_005067.1:p.Ala145Thr
NM_001346083.2:c.433G>A NP_001333012.1:p.Ala145Thr
NR_144350.2:n.702G>A