Canonical Allele Identifier: CA1750619804
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132604C= , CM000669.2:g.147132604C= GRCh38
NC_000007.13:g.146829696C= , CM000669.1:g.146829696C= GRCh37
NC_000007.12:g.146460629C= NCBI36
NG_007092.2:g.1021244C=
NG_007092.3:g.1021604C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+95C= MANE Select ENSP00000354778.3:n.1348+95C=
ENST00000636561.1:n.1251+95C=
ENST00000636870.1:n.1210+95C=
ENST00000637150.1:n.1277+95C=
ENST00000637694.1:n.1251+95C=
ENST00000637825.1:n.831+95C=
ENST00000638117.1:n.1251+95C=
ENST00000361727.7:c.1348+95C= ENSP00000354778.3:n.1348+95C=
NM_014141.5:c.1348+95C= NP_054860.1:n.1348+95C=
XM_017011950.2:c.1348+95C= XP_016867439.1:n.1348+95C=
NM_014141.6:c.1348+95C= MANE Select NP_054860.1:n.1348+95C=
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