Canonical Allele Identifier: CA2835071476

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491620G>T , CM000669.2:g.147491620G>T	GRCh38
NC_000007.13:g.147188712G>T , CM000669.1:g.147188712G>T	GRCh37
NC_000007.12:g.146819645G>T	NCBI36
NG_007092.2:g.1380260G>T
NG_007092.3:g.1380620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5579G>T MANE Select	ENSP00000354778.3:n.1777+5579G>T
ENST00000636870.1:n.1639+5579G>T
ENST00000637694.1:n.1681-5001G>T
ENST00000637825.1:n.1260+5579G>T
ENST00000638117.1:n.1680+5579G>T
ENST00000361727.7:c.1777+5579G>T	ENSP00000354778.3:n.1777+5579G>T
NM_014141.5:c.1777+5579G>T	NP_054860.1:n.1777+5579G>T
XM_006715919.1:c.265+5579G>T	XP_006715982.1:n.265+5579G>T
XM_017011950.2:c.1777+5579G>T	XP_016867439.1:n.1777+5579G>T
NM_014141.6:c.1777+5579G>T MANE Select	NP_054860.1:n.1777+5579G>T