Canonical Allele Identifier: CA1750841651
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571172A= , CM000669.2:g.147571172A= GRCh38
NC_000007.13:g.147268264A= , CM000669.1:g.147268264A= GRCh37
NC_000007.12:g.146899197A= NCBI36
NG_007092.2:g.1459812A=
NG_007092.3:g.1460172A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8915A= MANE Select ENSP00000354778.3:n.1897+8915A=
ENST00000636870.1:n.1759+8915A=
ENST00000637825.1:n.1380+8915A=
ENST00000638117.1:n.1800+8915A=
ENST00000361727.7:c.1897+8915A= ENSP00000354778.3:n.1897+8915A=
NM_014141.5:c.1897+8915A= NP_054860.1:n.1897+8915A=
XM_006715919.1:c.385+8915A= XP_006715982.1:n.385+8915A=
XM_017011950.2:c.1897+8915A= XP_016867439.1:n.1897+8915A=
NM_014141.6:c.1897+8915A= MANE Select NP_054860.1:n.1897+8915A=