Canonical Allele Identifier: CA1750619820
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128786G= , CM000669.2:g.147128786G= GRCh38
NC_000007.13:g.146825878G= , CM000669.1:g.146825878G= GRCh37
NC_000007.12:g.146456811G= NCBI36
NG_007092.2:g.1017426G=
NG_007092.3:g.1017786G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1033G= MANE Select ENSP00000354778.3:p.Val345=
ENST00000636561.1:n.936G=
ENST00000636870.1:n.895G=
ENST00000637150.1:n.962G=
ENST00000637694.1:n.936G=
ENST00000637825.1:n.516G=
ENST00000638117.1:n.936G=
ENST00000361727.7:c.1033G= ENSP00000354778.3:p.Val345=
NM_014141.5:c.1033G= NP_054860.1:p.Val345=
XM_017011950.2:c.1033G= XP_016867439.1:p.Val345=
NM_014141.6:c.1033G= MANE Select NP_054860.1:p.Val345=