Canonical Allele Identifier: CA1750993321
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904408C= , CM000669.2:g.147904408C= GRCh38
NC_000007.13:g.147601500C= , CM000669.1:g.147601500C= GRCh37
NC_000007.12:g.147232433C= NCBI36
NG_007092.2:g.1793048C=
NG_007092.3:g.1793408C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+687C= MANE Select ENSP00000354778.3:n.2255+687C=
ENST00000636870.1:n.2117+687C=
ENST00000637825.1:n.1738+687C=
ENST00000361727.7:c.2255+687C= ENSP00000354778.3:n.2255+687C=
ENST00000455301.2:n.190+687C=
ENST00000627772.2:n.428+687C=
NM_014141.5:c.2255+687C= NP_054860.1:n.2255+687C=
XM_006715919.1:c.743+687C= XP_006715982.1:n.743+687C=
NM_014141.6:c.2255+687C= MANE Select NP_054860.1:n.2255+687C=
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