Canonical Allele Identifier: CA1750654961
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200533C= , CM000669.2:g.147200533C= GRCh38
NC_000007.13:g.146897625C= , CM000669.1:g.146897625C= GRCh37
NC_000007.12:g.146528558C= NCBI36
NG_007092.2:g.1089173C=
NG_007092.3:g.1089533C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+68024C= MANE Select ENSP00000354778.3:n.1348+68024C=
ENST00000636870.1:n.1210+68024C=
ENST00000637694.1:n.1251+68024C=
ENST00000637825.1:n.831+68024C=
ENST00000638117.1:n.1251+68024C=
ENST00000361727.7:c.1348+68024C= ENSP00000354778.3:n.1348+68024C=
NM_014141.5:c.1348+68024C= NP_054860.1:n.1348+68024C=
XM_017011950.2:c.1348+68024C= XP_016867439.1:n.1348+68024C=
NM_014141.6:c.1348+68024C= MANE Select NP_054860.1:n.1348+68024C=
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