Canonical Allele Identifier: CA1750654890
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200374G= , CM000669.2:g.147200374G= GRCh38
NC_000007.13:g.146897466G= , CM000669.1:g.146897466G= GRCh37
NC_000007.12:g.146528399G= NCBI36
NG_007092.2:g.1089014G=
NG_007092.3:g.1089374G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+67865G= MANE Select ENSP00000354778.3:n.1348+67865G=
ENST00000636870.1:n.1210+67865G=
ENST00000637694.1:n.1251+67865G=
ENST00000637825.1:n.831+67865G=
ENST00000638117.1:n.1251+67865G=
ENST00000361727.7:c.1348+67865G= ENSP00000354778.3:n.1348+67865G=
NM_014141.5:c.1348+67865G= NP_054860.1:n.1348+67865G=
XM_017011950.2:c.1348+67865G= XP_016867439.1:n.1348+67865G=
NM_014141.6:c.1348+67865G= MANE Select NP_054860.1:n.1348+67865G=