Canonical Allele Identifier: CA2716023405
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs950914333

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882751C>G , CM000669.2:g.147882751C>G GRCh38
NC_000007.13:g.147579843C>G , CM000669.1:g.147579843C>G GRCh37
NC_000007.12:g.147210776C>G NCBI36
NG_007092.2:g.1771391C>G
NG_007092.3:g.1771751C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20814C>G MANE Select ENSP00000354778.3:n.2099-20814C>G
ENST00000636870.1:n.1961-20814C>G
ENST00000637825.1:n.1582-20814C>G
ENST00000361727.7:c.2099-20814C>G ENSP00000354778.3:n.2099-20814C>G
ENST00000455301.2:n.34-20814C>G
ENST00000627772.2:n.272-20814C>G
NM_014141.5:c.2099-20814C>G NP_054860.1:n.2099-20814C>G
XM_006715919.1:c.587-20814C>G XP_006715982.1:n.587-20814C>G
NM_014141.6:c.2099-20814C>G MANE Select NP_054860.1:n.2099-20814C>G