Canonical Allele Identifier: CA1750443848
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792693T= , CM000669.2:g.146792693T= GRCh38
NC_000007.13:g.146489785T= , CM000669.1:g.146489785T= GRCh37
NC_000007.12:g.146120718T= NCBI36
NG_007092.2:g.681333T=
NG_007092.3:g.681693T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+18312T= MANE Select ENSP00000354778.3:n.208+18312T=
ENST00000636561.1:n.111+18312T=
ENST00000637150.1:n.137+18312T=
ENST00000637694.1:n.111+18312T=
ENST00000638117.1:n.111+18312T=
ENST00000361727.7:c.208+18312T= ENSP00000354778.3:n.208+18312T=
ENST00000625365.2:c.208+18312T= ENSP00000485955.1:n.208+18312T=
NM_014141.5:c.208+18312T= NP_054860.1:n.208+18312T=
XM_017011950.2:c.208+18312T= XP_016867439.1:n.208+18312T=
NM_014141.6:c.208+18312T= MANE Select NP_054860.1:n.208+18312T=