Canonical Allele Identifier: CA1750993629
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904787T= , CM000669.2:g.147904787T= GRCh38
NC_000007.13:g.147601879T= , CM000669.1:g.147601879T= GRCh37
NC_000007.12:g.147232812T= NCBI36
NG_007092.2:g.1793427T=
NG_007092.3:g.1793787T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+1066T= MANE Select ENSP00000354778.3:n.2255+1066T=
ENST00000636870.1:n.2117+1066T=
ENST00000637825.1:n.1738+1066T=
ENST00000361727.7:c.2255+1066T= ENSP00000354778.3:n.2255+1066T=
ENST00000455301.2:n.190+1066T=
ENST00000627772.2:n.428+1066T=
NM_014141.5:c.2255+1066T= NP_054860.1:n.2255+1066T=
XM_006715919.1:c.743+1066T= XP_006715982.1:n.743+1066T=
NM_014141.6:c.2255+1066T= MANE Select NP_054860.1:n.2255+1066T=
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