Canonical Allele Identifier: CA344405319

Gene: CNTN2

Linked Data

• ClinVar Variation Id: 474483
• ClinVar RCV Id: RCV000552208
• dbSNP Id: rs1424524492
• gnomAD v2: 1-205027451-G-A
• gnomAD v3: 1-205058323-G-A
• gnomAD v4: 1-205058323-G-A
• COSMIC: COSM1741524
• MyVariant Identifiers: chr1:g.205027451G>A (hg19) ; chr1:g.205058323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205058323G>A , CM000663.2:g.205058323G>A	GRCh38
NC_000001.10:g.205027451G>A , CM000663.1:g.205027451G>A	GRCh37
NC_000001.9:g.203294074G>A	NCBI36
NG_033845.1:g.20112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331830.7:c.358G>A MANE Select	ENSP00000330633.4:p.Val120Ile
ENST00000532366.2:c.*945G>A	ENSP00000491665.1:n.*945G>A
ENST00000636809.2:n.646G>A
ENST00000638378.1:c.358G>A	ENSP00000492617.1:p.Val120Ile
ENST00000639302.1:c.358G>A	ENSP00000491671.1:p.Val120Ile
ENST00000639971.1:c.358G>A	ENSP00000491959.1:p.Val120Ile
ENST00000640326.1:c.358G>A	ENSP00000492495.1:p.Val120Ile
ENST00000640352.1:c.*945G>A	ENSP00000491080.1:n.*945G>A
ENST00000640428.1:c.358G>A	ENSP00000491474.1:p.Val120Ile
ENST00000331830.4:c.358G>A	ENSP00000330633.4:p.Val120Ile
ENST00000532366.1:n.471G>A
NM_005076.3:c.358G>A	NP_005067.1:p.Val120Ile
XM_011509925.1:c.343G>A	XP_011508227.1:p.Val115Ile
NM_001346083.1:c.358G>A	NP_001333012.1:p.Val120Ile
NM_005076.4:c.358G>A	NP_005067.1:p.Val120Ile
NR_144350.1:n.715G>A
XM_017002198.1:c.358G>A	XP_016857687.1:p.Val120Ile
XM_017002199.2:c.343G>A	XP_016857688.1:p.Val115Ile
XM_024449386.1:c.397G>A	XP_024305154.1:p.Val133Ile
XM_024449387.1:c.-181G>A	XP_024305155.1:n.-181G>A
XM_024449388.1:c.-181G>A	XP_024305156.1:n.-181G>A
XM_024449389.1:c.397G>A	XP_024305157.1:p.Val133Ile
NM_005076.5:c.358G>A MANE Select	NP_005067.1:p.Val120Ile
NM_001346083.2:c.358G>A	NP_001333012.1:p.Val120Ile
NR_144350.2:n.627G>A