Canonical Allele Identifier: CA1750620189
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128932T= , CM000669.2:g.147128932T= GRCh38
NC_000007.13:g.146826024T= , CM000669.1:g.146826024T= GRCh37
NC_000007.12:g.146456957T= NCBI36
NG_007092.2:g.1017572T=
NG_007092.3:g.1017932T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1083+96T= MANE Select ENSP00000354778.3:n.1083+96T=
ENST00000636561.1:n.986+96T=
ENST00000636870.1:n.945+96T=
ENST00000637150.1:n.1012+96T=
ENST00000637694.1:n.986+96T=
ENST00000637825.1:n.566+96T=
ENST00000638117.1:n.986+96T=
ENST00000361727.7:c.1083+96T= ENSP00000354778.3:n.1083+96T=
NM_014141.5:c.1083+96T= NP_054860.1:n.1083+96T=
XM_017011950.2:c.1083+96T= XP_016867439.1:n.1083+96T=
NM_014141.6:c.1083+96T= MANE Select NP_054860.1:n.1083+96T=