Canonical Allele Identifier: CA652039480

Gene: CNTNAP2

Linked Data

• COSMIC: COSN2209332

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904409C>T , CM000669.2:g.147904409C>T	GRCh38
NC_000007.13:g.147601501C>T , CM000669.1:g.147601501C>T	GRCh37
NC_000007.12:g.147232434C>T	NCBI36
NG_007092.2:g.1793049C>T
NG_007092.3:g.1793409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+688C>T MANE Select	ENSP00000354778.3:n.2255+688C>T
ENST00000636870.1:n.2117+688C>T
ENST00000637825.1:n.1738+688C>T
ENST00000361727.7:c.2255+688C>T	ENSP00000354778.3:n.2255+688C>T
ENST00000455301.2:n.190+688C>T
ENST00000627772.2:n.428+688C>T
NM_014141.5:c.2255+688C>T	NP_054860.1:n.2255+688C>T
XM_006715919.1:c.743+688C>T	XP_006715982.1:n.743+688C>T
NM_014141.6:c.2255+688C>T MANE Select	NP_054860.1:n.2255+688C>T