Canonical Allele Identifier: CA1750841627
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571156C= , CM000669.2:g.147571156C= GRCh38
NC_000007.13:g.147268248C= , CM000669.1:g.147268248C= GRCh37
NC_000007.12:g.146899181C= NCBI36
NG_007092.2:g.1459796C=
NG_007092.3:g.1460156C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8899C= MANE Select ENSP00000354778.3:n.1897+8899C=
ENST00000636870.1:n.1759+8899C=
ENST00000637825.1:n.1380+8899C=
ENST00000638117.1:n.1800+8899C=
ENST00000361727.7:c.1897+8899C= ENSP00000354778.3:n.1897+8899C=
NM_014141.5:c.1897+8899C= NP_054860.1:n.1897+8899C=
XM_006715919.1:c.385+8899C= XP_006715982.1:n.385+8899C=
XM_017011950.2:c.1897+8899C= XP_016867439.1:n.1897+8899C=
NM_014141.6:c.1897+8899C= MANE Select NP_054860.1:n.1897+8899C=