Canonical Allele Identifier: CA344402490

Gene: CNTN2

Linked Data

• ClinVar Variation Id: 1473378
• ClinVar RCV Id: RCV001969516
• dbSNP Id: rs2096455937
• MyVariant Identifiers: chr1:g.205022344C>G (hg19) ; chr1:g.205053216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205053216C>G , CM000663.2:g.205053216C>G	GRCh38
NC_000001.10:g.205022344C>G , CM000663.1:g.205022344C>G	GRCh37
NC_000001.9:g.203288967C>G	NCBI36
NG_033845.1:g.15005C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331830.7:c.31C>G MANE Select	ENSP00000330633.4:p.Leu11Val
ENST00000532366.2:c.31C>G	ENSP00000491665.1:p.Leu11Val
ENST00000636809.2:n.319C>G
ENST00000638378.1:c.31C>G	ENSP00000492617.1:p.Leu11Val
ENST00000639302.1:c.31C>G	ENSP00000491671.1:p.Leu11Val
ENST00000639971.1:c.31C>G	ENSP00000491959.1:p.Leu11Val
ENST00000640326.1:c.31C>G	ENSP00000492495.1:p.Leu11Val
ENST00000640352.1:c.31C>G	ENSP00000491080.1:p.Leu11Val
ENST00000640428.1:c.31C>G	ENSP00000491474.1:p.Leu11Val
ENST00000331830.4:c.31C>G	ENSP00000330633.4:p.Leu11Val
NM_005076.3:c.31C>G	NP_005067.1:p.Leu11Val
XM_011509925.1:c.-188C>G	XP_011508227.1:n.-188C>G
NM_001346083.1:c.31C>G	NP_001333012.1:p.Leu11Val
NM_005076.4:c.31C>G	NP_005067.1:p.Leu11Val
NR_144350.1:n.388C>G
XM_017002198.1:c.31C>G	XP_016857687.1:p.Leu11Val
XM_017002199.2:c.-188C>G	XP_016857688.1:n.-188C>G
XM_024449386.1:c.-644C>G	XP_024305154.1:n.-644C>G
XM_024449387.1:c.-508C>G	XP_024305155.1:n.-508C>G
XM_024449388.1:c.-1221C>G	XP_024305156.1:n.-1221C>G
XM_024449389.1:c.-644C>G	XP_024305157.1:n.-644C>G
NM_005076.5:c.31C>G MANE Select	NP_005067.1:p.Leu11Val
NM_001346083.2:c.31C>G	NP_001333012.1:p.Leu11Val
NR_144350.2:n.300C>G