Canonical Allele Identifier: CA1750436730
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778381A= , CM000669.2:g.146778381A= GRCh38
NC_000007.13:g.146475473A= , CM000669.1:g.146475473A= GRCh37
NC_000007.12:g.146106406A= NCBI36
NG_007092.2:g.667021A=
NG_007092.3:g.667381A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+4000A= MANE Select ENSP00000354778.3:n.208+4000A=
ENST00000636277.1:n.75+4000A=
ENST00000636561.1:n.111+4000A=
ENST00000636600.1:n.59-3828A=
ENST00000637150.1:n.137+4000A=
ENST00000637694.1:n.111+4000A=
ENST00000638117.1:n.111+4000A=
ENST00000361727.7:c.208+4000A= ENSP00000354778.3:n.208+4000A=
ENST00000625365.2:c.208+4000A= ENSP00000485955.1:n.208+4000A=
NM_014141.5:c.208+4000A= NP_054860.1:n.208+4000A=
XM_017011950.2:c.208+4000A= XP_016867439.1:n.208+4000A=
NM_014141.6:c.208+4000A= MANE Select NP_054860.1:n.208+4000A=