Canonical Allele Identifier: CA1750993391
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904501G= , CM000669.2:g.147904501G= GRCh38
NC_000007.13:g.147601593G= , CM000669.1:g.147601593G= GRCh37
NC_000007.12:g.147232526G= NCBI36
NG_007092.2:g.1793141G=
NG_007092.3:g.1793501G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+780G= MANE Select ENSP00000354778.3:n.2255+780G=
ENST00000636870.1:n.2117+780G=
ENST00000637825.1:n.1738+780G=
ENST00000361727.7:c.2255+780G= ENSP00000354778.3:n.2255+780G=
ENST00000455301.2:n.190+780G=
ENST00000627772.2:n.428+780G=
NM_014141.5:c.2255+780G= NP_054860.1:n.2255+780G=
XM_006715919.1:c.743+780G= XP_006715982.1:n.743+780G=
NM_014141.6:c.2255+780G= MANE Select NP_054860.1:n.2255+780G=
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