Canonical Allele Identifier: CA1750619751
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128736G= , CM000669.2:g.147128736G= GRCh38
NC_000007.13:g.146825828G= , CM000669.1:g.146825828G= GRCh37
NC_000007.12:g.146456761G= NCBI36
NG_007092.2:g.1017376G=
NG_007092.3:g.1017736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.983G= MANE Select ENSP00000354778.3:p.Ser328=
ENST00000636561.1:n.886G=
ENST00000636870.1:n.845G=
ENST00000637150.1:n.912G=
ENST00000637694.1:n.886G=
ENST00000637825.1:n.466G=
ENST00000638117.1:n.886G=
ENST00000361727.7:c.983G= ENSP00000354778.3:p.Ser328=
NM_014141.5:c.983G= NP_054860.1:p.Ser328=
XM_017011950.2:c.983G= XP_016867439.1:p.Ser328=
NM_014141.6:c.983G= MANE Select NP_054860.1:p.Ser328=