Canonical Allele Identifier: CA1750654924
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200455T= , CM000669.2:g.147200455T= GRCh38
NC_000007.13:g.146897547T= , CM000669.1:g.146897547T= GRCh37
NC_000007.12:g.146528480T= NCBI36
NG_007092.2:g.1089095T=
NG_007092.3:g.1089455T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+67946T= MANE Select ENSP00000354778.3:n.1348+67946T=
ENST00000636870.1:n.1210+67946T=
ENST00000637694.1:n.1251+67946T=
ENST00000637825.1:n.831+67946T=
ENST00000638117.1:n.1251+67946T=
ENST00000361727.7:c.1348+67946T= ENSP00000354778.3:n.1348+67946T=
NM_014141.5:c.1348+67946T= NP_054860.1:n.1348+67946T=
XM_017011950.2:c.1348+67946T= XP_016867439.1:n.1348+67946T=
NM_014141.6:c.1348+67946T= MANE Select NP_054860.1:n.1348+67946T=
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