Canonical Allele Identifier: CA1750436708
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778329T= , CM000669.2:g.146778329T= GRCh38
NC_000007.13:g.146475421T= , CM000669.1:g.146475421T= GRCh37
NC_000007.12:g.146106354T= NCBI36
NG_007092.2:g.666969T=
NG_007092.3:g.667329T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3948T= MANE Select ENSP00000354778.3:n.208+3948T=
ENST00000636277.1:n.75+3948T=
ENST00000636561.1:n.111+3948T=
ENST00000636600.1:n.59-3880T=
ENST00000637150.1:n.137+3948T=
ENST00000637694.1:n.111+3948T=
ENST00000638117.1:n.111+3948T=
ENST00000361727.7:c.208+3948T= ENSP00000354778.3:n.208+3948T=
ENST00000625365.2:c.208+3948T= ENSP00000485955.1:n.208+3948T=
NM_014141.5:c.208+3948T= NP_054860.1:n.208+3948T=
XM_017011950.2:c.208+3948T= XP_016867439.1:n.208+3948T=
NM_014141.6:c.208+3948T= MANE Select NP_054860.1:n.208+3948T=