Canonical Allele Identifier: CA1750654842
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200289C= , CM000669.2:g.147200289C= GRCh38
NC_000007.13:g.146897381C= , CM000669.1:g.146897381C= GRCh37
NC_000007.12:g.146528314C= NCBI36
NG_007092.2:g.1088929C=
NG_007092.3:g.1089289C=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+67780C= MANE Select ENSP00000354778.3:n.1348+67780C=
ENST00000636870.1:n.1210+67780C=
ENST00000637694.1:n.1251+67780C=
ENST00000637825.1:n.831+67780C=
ENST00000638117.1:n.1251+67780C=
ENST00000361727.7:c.1348+67780C= ENSP00000354778.3:n.1348+67780C=
NM_014141.5:c.1348+67780C= NP_054860.1:n.1348+67780C=
XM_017011950.2:c.1348+67780C= XP_016867439.1:n.1348+67780C=
NM_014141.6:c.1348+67780C= MANE Select NP_054860.1:n.1348+67780C=
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