Canonical Allele Identifier: CA1750654984
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200614C= , CM000669.2:g.147200614C= GRCh38
NC_000007.13:g.146897706C= , CM000669.1:g.146897706C= GRCh37
NC_000007.12:g.146528639C= NCBI36
NG_007092.2:g.1089254C=
NG_007092.3:g.1089614C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+68105C= MANE Select ENSP00000354778.3:n.1348+68105C=
ENST00000636870.1:n.1210+68105C=
ENST00000637694.1:n.1251+68105C=
ENST00000637825.1:n.831+68105C=
ENST00000638117.1:n.1251+68105C=
ENST00000361727.7:c.1348+68105C= ENSP00000354778.3:n.1348+68105C=
NM_014141.5:c.1348+68105C= NP_054860.1:n.1348+68105C=
XM_017011950.2:c.1348+68105C= XP_016867439.1:n.1348+68105C=
NM_014141.6:c.1348+68105C= MANE Select NP_054860.1:n.1348+68105C=