Canonical Allele Identifier: CA1750805261
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147491652A= , CM000669.2:g.147491652A= GRCh38
NC_000007.13:g.147188744A= , CM000669.1:g.147188744A= GRCh37
NC_000007.12:g.146819677A= NCBI36
NG_007092.2:g.1380292A=
NG_007092.3:g.1380652A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+5611A= MANE Select ENSP00000354778.3:n.1777+5611A=
ENST00000636870.1:n.1639+5611A=
ENST00000637694.1:n.1681-4969A=
ENST00000637825.1:n.1260+5611A=
ENST00000638117.1:n.1680+5611A=
ENST00000361727.7:c.1777+5611A= ENSP00000354778.3:n.1777+5611A=
NM_014141.5:c.1777+5611A= NP_054860.1:n.1777+5611A=
XM_006715919.1:c.265+5611A= XP_006715982.1:n.265+5611A=
XM_017011950.2:c.1777+5611A= XP_016867439.1:n.1777+5611A=
NM_014141.6:c.1777+5611A= MANE Select NP_054860.1:n.1777+5611A=