Canonical Allele Identifier: CA1750993367
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904472T= , CM000669.2:g.147904472T= GRCh38
NC_000007.13:g.147601564T= , CM000669.1:g.147601564T= GRCh37
NC_000007.12:g.147232497T= NCBI36
NG_007092.2:g.1793112T=
NG_007092.3:g.1793472T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+751T= MANE Select ENSP00000354778.3:n.2255+751T=
ENST00000636870.1:n.2117+751T=
ENST00000637825.1:n.1738+751T=
ENST00000361727.7:c.2255+751T= ENSP00000354778.3:n.2255+751T=
ENST00000455301.2:n.190+751T=
ENST00000627772.2:n.428+751T=
NM_014141.5:c.2255+751T= NP_054860.1:n.2255+751T=
XM_006715919.1:c.743+751T= XP_006715982.1:n.743+751T=
NM_014141.6:c.2255+751T= MANE Select NP_054860.1:n.2255+751T=
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