Canonical Allele Identifier: CA1750654954
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200516C= , CM000669.2:g.147200516C= GRCh38
NC_000007.13:g.146897608C= , CM000669.1:g.146897608C= GRCh37
NC_000007.12:g.146528541C= NCBI36
NG_007092.2:g.1089156C=
NG_007092.3:g.1089516C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+68007C= MANE Select ENSP00000354778.3:n.1348+68007C=
ENST00000636870.1:n.1210+68007C=
ENST00000637694.1:n.1251+68007C=
ENST00000637825.1:n.831+68007C=
ENST00000638117.1:n.1251+68007C=
ENST00000361727.7:c.1348+68007C= ENSP00000354778.3:n.1348+68007C=
NM_014141.5:c.1348+68007C= NP_054860.1:n.1348+68007C=
XM_017011950.2:c.1348+68007C= XP_016867439.1:n.1348+68007C=
NM_014141.6:c.1348+68007C= MANE Select NP_054860.1:n.1348+68007C=
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