Canonical Allele Identifier: CA1750443646
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792313T= , CM000669.2:g.146792313T= GRCh38
NC_000007.13:g.146489405T= , CM000669.1:g.146489405T= GRCh37
NC_000007.12:g.146120338T= NCBI36
NG_007092.2:g.680953T=
NG_007092.3:g.681313T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+17932T= MANE Select ENSP00000354778.3:n.208+17932T=
ENST00000636561.1:n.111+17932T=
ENST00000637150.1:n.137+17932T=
ENST00000637694.1:n.111+17932T=
ENST00000638117.1:n.111+17932T=
ENST00000361727.7:c.208+17932T= ENSP00000354778.3:n.208+17932T=
ENST00000625365.2:c.208+17932T= ENSP00000485955.1:n.208+17932T=
NM_014141.5:c.208+17932T= NP_054860.1:n.208+17932T=
XM_017011950.2:c.208+17932T= XP_016867439.1:n.208+17932T=
NM_014141.6:c.208+17932T= MANE Select NP_054860.1:n.208+17932T=