Canonical Allele Identifier: CA1750619869
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132752T= , CM000669.2:g.147132752T= GRCh38
NC_000007.13:g.146829844T= , CM000669.1:g.146829844T= GRCh37
NC_000007.12:g.146460777T= NCBI36
NG_007092.2:g.1021392T=
NG_007092.3:g.1021752T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+243T= MANE Select ENSP00000354778.3:n.1348+243T=
ENST00000636561.1:n.1251+243T=
ENST00000636870.1:n.1210+243T=
ENST00000637150.1:n.1277+243T=
ENST00000637694.1:n.1251+243T=
ENST00000637825.1:n.831+243T=
ENST00000638117.1:n.1251+243T=
ENST00000361727.7:c.1348+243T= ENSP00000354778.3:n.1348+243T=
NM_014141.5:c.1348+243T= NP_054860.1:n.1348+243T=
XM_017011950.2:c.1348+243T= XP_016867439.1:n.1348+243T=
NM_014141.6:c.1348+243T= MANE Select NP_054860.1:n.1348+243T=