Canonical Allele Identifier: CA1750443761
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792523C= , CM000669.2:g.146792523C= GRCh38
NC_000007.13:g.146489615C= , CM000669.1:g.146489615C= GRCh37
NC_000007.12:g.146120548C= NCBI36
NG_007092.2:g.681163C=
NG_007092.3:g.681523C=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18142C= MANE Select ENSP00000354778.3:n.208+18142C=
ENST00000636561.1:n.111+18142C=
ENST00000637150.1:n.137+18142C=
ENST00000637694.1:n.111+18142C=
ENST00000638117.1:n.111+18142C=
ENST00000361727.7:c.208+18142C= ENSP00000354778.3:n.208+18142C=
ENST00000625365.2:c.208+18142C= ENSP00000485955.1:n.208+18142C=
NM_014141.5:c.208+18142C= NP_054860.1:n.208+18142C=
XM_017011950.2:c.208+18142C= XP_016867439.1:n.208+18142C=
NM_014141.6:c.208+18142C= MANE Select NP_054860.1:n.208+18142C=