Canonical Allele Identifier: CA1751005490
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147918570G= , CM000669.2:g.147918570G= GRCh38
NC_000007.13:g.147615662G= , CM000669.1:g.147615662G= GRCh37
NC_000007.12:g.147246595G= NCBI36
NG_007092.2:g.1807210G=
NG_007092.3:g.1807570G=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+14849G= MANE Select ENSP00000354778.3:n.2255+14849G=
ENST00000636870.1:n.2117+14849G=
ENST00000637825.1:n.1738+14849G=
ENST00000361727.7:c.2255+14849G= ENSP00000354778.3:n.2255+14849G=
ENST00000455301.2:n.190+14849G=
ENST00000627772.2:n.428+14849G=
NM_014141.5:c.2255+14849G= NP_054860.1:n.2255+14849G=
XM_006715919.1:c.743+14849G= XP_006715982.1:n.743+14849G=
NM_014141.6:c.2255+14849G= MANE Select NP_054860.1:n.2255+14849G=