Canonical Allele Identifier: CA1750805761

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs2141388

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492648C>A , CM000669.2:g.147492648C>A	GRCh38
NC_000007.13:g.147189740C>A , CM000669.1:g.147189740C>A	GRCh37
NC_000007.12:g.146820673C>A	NCBI36
NG_007092.2:g.1381288C>A
NG_007092.3:g.1381648C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+6607C>A MANE Select	ENSP00000354778.3:n.1777+6607C>A
ENST00000636870.1:n.1639+6607C>A
ENST00000637694.1:n.1681-3973C>A
ENST00000637825.1:n.1260+6607C>A
ENST00000638117.1:n.1680+6607C>A
ENST00000361727.7:c.1777+6607C>A	ENSP00000354778.3:n.1777+6607C>A
NM_014141.5:c.1777+6607C>A	NP_054860.1:n.1777+6607C>A
XM_006715919.1:c.265+6607C>A	XP_006715982.1:n.265+6607C>A
XM_017011950.2:c.1777+6607C>A	XP_016867439.1:n.1777+6607C>A
NM_014141.6:c.1777+6607C>A MANE Select	NP_054860.1:n.1777+6607C>A