Canonical Allele Identifier: CA1750619747
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128730G= , CM000669.2:g.147128730G= GRCh38
NC_000007.13:g.146825822G= , CM000669.1:g.146825822G= GRCh37
NC_000007.12:g.146456755G= NCBI36
NG_007092.2:g.1017370G=
NG_007092.3:g.1017730G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.977G= MANE Select ENSP00000354778.3:p.Ser326=
ENST00000636561.1:n.880G=
ENST00000636870.1:n.839G=
ENST00000637150.1:n.906G=
ENST00000637694.1:n.880G=
ENST00000637825.1:n.460G=
ENST00000638117.1:n.880G=
ENST00000361727.7:c.977G= ENSP00000354778.3:p.Ser326=
NM_014141.5:c.977G= NP_054860.1:p.Ser326=
XM_017011950.2:c.977G= XP_016867439.1:p.Ser326=
NM_014141.6:c.977G= MANE Select NP_054860.1:p.Ser326=