Canonical Allele Identifier: CA1750993412
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904524G= , CM000669.2:g.147904524G= GRCh38
NC_000007.13:g.147601616G= , CM000669.1:g.147601616G= GRCh37
NC_000007.12:g.147232549G= NCBI36
NG_007092.2:g.1793164G=
NG_007092.3:g.1793524G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+803G= MANE Select ENSP00000354778.3:n.2255+803G=
ENST00000636870.1:n.2117+803G=
ENST00000637825.1:n.1738+803G=
ENST00000361727.7:c.2255+803G= ENSP00000354778.3:n.2255+803G=
ENST00000455301.2:n.190+803G=
ENST00000627772.2:n.428+803G=
NM_014141.5:c.2255+803G= NP_054860.1:n.2255+803G=
XM_006715919.1:c.743+803G= XP_006715982.1:n.743+803G=
NM_014141.6:c.2255+803G= MANE Select NP_054860.1:n.2255+803G=