Canonical Allele Identifier: CA2574116691
Gene: CNTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2872198
ClinVar RCV Id: RCV003742416

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205058162C>T , CM000663.2:g.205058162C>T GRCh38
NC_000001.10:g.205027290C>T , CM000663.1:g.205027290C>T GRCh37
NC_000001.9:g.203293913C>T NCBI36
NG_033845.1:g.19951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331830.7:c.216-19C>T MANE Select ENSP00000330633.4:n.216-19C>T
ENST00000532366.2:c.*803-19C>T ENSP00000491665.1:n.*803-19C>T
ENST00000636809.2:n.504-19C>T
ENST00000638378.1:c.216-19C>T ENSP00000492617.1:n.216-19C>T
ENST00000639302.1:c.216-19C>T ENSP00000491671.1:n.216-19C>T
ENST00000639971.1:c.216-19C>T ENSP00000491959.1:n.216-19C>T
ENST00000640326.1:c.216-19C>T ENSP00000492495.1:n.216-19C>T
ENST00000640352.1:c.*803-19C>T ENSP00000491080.1:n.*803-19C>T
ENST00000640428.1:c.216-19C>T ENSP00000491474.1:n.216-19C>T
ENST00000331830.4:c.216-19C>T ENSP00000330633.4:n.216-19C>T
ENST00000532366.1:n.329-19C>T
NM_005076.3:c.216-19C>T NP_005067.1:n.216-19C>T
XM_011509925.1:c.201-19C>T XP_011508227.1:n.201-19C>T
NM_001346083.1:c.216-19C>T NP_001333012.1:n.216-19C>T
NM_005076.4:c.216-19C>T NP_005067.1:n.216-19C>T
NR_144350.1:n.573-19C>T
XM_017002198.1:c.216-19C>T XP_016857687.1:n.216-19C>T
XM_017002199.2:c.201-19C>T XP_016857688.1:n.201-19C>T
XM_024449386.1:c.255-19C>T XP_024305154.1:n.255-19C>T
XM_024449387.1:c.-323-19C>T XP_024305155.1:n.-323-19C>T
XM_024449388.1:c.-323-19C>T XP_024305156.1:n.-323-19C>T
XM_024449389.1:c.255-19C>T XP_024305157.1:n.255-19C>T
NM_005076.5:c.216-19C>T MANE Select NP_005067.1:n.216-19C>T
NM_001346083.2:c.216-19C>T NP_001333012.1:n.216-19C>T
NR_144350.2:n.485-19C>T