Canonical Allele Identifier: CA1750623935
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132349A= , CM000669.2:g.147132349A= GRCh38
NC_000007.13:g.146829441A= , CM000669.1:g.146829441A= GRCh37
NC_000007.12:g.146460374A= NCBI36
NG_007092.2:g.1020989A=
NG_007092.3:g.1021349A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1188A= MANE Select ENSP00000354778.3:p.Ser396=
ENST00000636561.1:n.1091A=
ENST00000636870.1:n.1050A=
ENST00000637150.1:n.1117A=
ENST00000637694.1:n.1091A=
ENST00000637825.1:n.671A=
ENST00000638117.1:n.1091A=
ENST00000361727.7:c.1188A= ENSP00000354778.3:p.Ser396=
NM_014141.5:c.1188A= NP_054860.1:p.Ser396=
XM_017011950.2:c.1188A= XP_016867439.1:p.Ser396=
NM_014141.6:c.1188A= MANE Select NP_054860.1:p.Ser396=