Canonical Allele Identifier: CA1350992

Gene: CNTN2

Linked Data

• ClinVar Variation Id: 474482
• ClinVar RCV Id: RCV000541289 ; RCV001541294
• dbSNP Id: rs9787172
• ExAC: 1:205027390 C / T
• gnomAD v2: 1-205027390-C-T
• gnomAD v3: 1-205058262-C-T
• gnomAD v4: 1-205058262-C-T
• MyVariant Identifiers: chr1:g.205027390C>T (hg19) ; chr1:g.205058262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205058262C>T , CM000663.2:g.205058262C>T	GRCh38
NC_000001.10:g.205027390C>T , CM000663.1:g.205027390C>T	GRCh37
NC_000001.9:g.203294013C>T	NCBI36
NG_033845.1:g.20051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331830.7:c.297C>T MANE Select	ENSP00000330633.4:p.Asn99=
ENST00000532366.2:c.*884C>T	ENSP00000491665.1:n.*884C>T
ENST00000636809.2:n.585C>T
ENST00000638378.1:c.297C>T	ENSP00000492617.1:p.Asn99=
ENST00000639302.1:c.297C>T	ENSP00000491671.1:p.Asn99=
ENST00000639971.1:c.297C>T	ENSP00000491959.1:p.Asn99=
ENST00000640326.1:c.297C>T	ENSP00000492495.1:p.Asn99=
ENST00000640352.1:c.*884C>T	ENSP00000491080.1:n.*884C>T
ENST00000640428.1:c.297C>T	ENSP00000491474.1:p.Asn99=
ENST00000331830.4:c.297C>T	ENSP00000330633.4:p.Asn99=
ENST00000532366.1:n.410C>T
NM_005076.3:c.297C>T	NP_005067.1:p.Asn99=
XM_011509925.1:c.282C>T	XP_011508227.1:p.Asn94=
NM_001346083.1:c.297C>T	NP_001333012.1:p.Asn99=
NM_005076.4:c.297C>T	NP_005067.1:p.Asn99=
NR_144350.1:n.654C>T
XM_017002198.1:c.297C>T	XP_016857687.1:p.Asn99=
XM_017002199.2:c.282C>T	XP_016857688.1:p.Asn94=
XM_024449386.1:c.336C>T	XP_024305154.1:p.Asn112=
XM_024449387.1:c.-242C>T	XP_024305155.1:n.-242C>T
XM_024449388.1:c.-242C>T	XP_024305156.1:n.-242C>T
XM_024449389.1:c.336C>T	XP_024305157.1:p.Asn112=
NM_005076.5:c.297C>T MANE Select	NP_005067.1:p.Asn99=
NM_001346083.2:c.297C>T	NP_001333012.1:p.Asn99=
NR_144350.2:n.566C>T