Canonical Allele Identifier: CA645558555

Gene: CNTNAP2

Linked Data

• COSMIC: COSM1683401

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128751dup , CM000669.2:g.147128751dup	GRCh38
NC_000007.13:g.146825843dup , CM000669.1:g.146825843dup	GRCh37
NC_000007.12:g.146456776dup	NCBI36
NG_007092.2:g.1017391dup
NG_007092.3:g.1017751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.998dup MANE Select	ENSP00000354778.3:p.Lys334GlnfsTer16
ENST00000636561.1:n.901dup
ENST00000636870.1:n.860dup
ENST00000637150.1:n.927dup
ENST00000637694.1:n.901dup
ENST00000637825.1:n.481dup
ENST00000638117.1:n.901dup
ENST00000361727.7:c.998dup	ENSP00000354778.3:p.Lys334GlnfsTer16
NM_014141.5:c.998dup	NP_054860.1:p.Lys334GlnfsTer16
XM_017011950.2:c.998dup	XP_016867439.1:p.Lys334GlnfsTer16
NM_014141.6:c.998dup MANE Select	NP_054860.1:p.Lys334GlnfsTer16