Canonical Allele Identifier: CA1750436749
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778429G= , CM000669.2:g.146778429G= GRCh38
NC_000007.13:g.146475521G= , CM000669.1:g.146475521G= GRCh37
NC_000007.12:g.146106454G= NCBI36
NG_007092.2:g.667069G=
NG_007092.3:g.667429G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+4048G= MANE Select ENSP00000354778.3:n.208+4048G=
ENST00000636277.1:n.75+4048G=
ENST00000636561.1:n.111+4048G=
ENST00000636600.1:n.59-3780G=
ENST00000637150.1:n.137+4048G=
ENST00000637694.1:n.111+4048G=
ENST00000638117.1:n.111+4048G=
ENST00000361727.7:c.208+4048G= ENSP00000354778.3:n.208+4048G=
ENST00000625365.2:c.208+4048G= ENSP00000485955.1:n.208+4048G=
NM_014141.5:c.208+4048G= NP_054860.1:n.208+4048G=
XM_017011950.2:c.208+4048G= XP_016867439.1:n.208+4048G=
NM_014141.6:c.208+4048G= MANE Select NP_054860.1:n.208+4048G=