Canonical Allele Identifier: CA1750436624
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778146G= , CM000669.2:g.146778146G= GRCh38
NC_000007.13:g.146475238G= , CM000669.1:g.146475238G= GRCh37
NC_000007.12:g.146106171G= NCBI36
NG_007092.2:g.666786G=
NG_007092.3:g.667146G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3765G= MANE Select ENSP00000354778.3:n.208+3765G=
ENST00000636277.1:n.75+3765G=
ENST00000636561.1:n.111+3765G=
ENST00000636600.1:n.58+3765G=
ENST00000637150.1:n.137+3765G=
ENST00000637694.1:n.111+3765G=
ENST00000638117.1:n.111+3765G=
ENST00000361727.7:c.208+3765G= ENSP00000354778.3:n.208+3765G=
ENST00000625365.2:c.208+3765G= ENSP00000485955.1:n.208+3765G=
NM_014141.5:c.208+3765G= NP_054860.1:n.208+3765G=
XM_017011950.2:c.208+3765G= XP_016867439.1:n.208+3765G=
NM_014141.6:c.208+3765G= MANE Select NP_054860.1:n.208+3765G=