Canonical Allele Identifier: CA168735656

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs2107856
• MyVariant Identifiers: chr7:g.147188685G>A (hg19) ; chr7:g.147491593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491593G>A , CM000669.2:g.147491593G>A	GRCh38
NC_000007.13:g.147188685G>A , CM000669.1:g.147188685G>A	GRCh37
NC_000007.12:g.146819618G>A	NCBI36
NG_007092.2:g.1380233G>A
NG_007092.3:g.1380593G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5552G>A MANE Select	ENSP00000354778.3:n.1777+5552G>A
ENST00000636870.1:n.1639+5552G>A
ENST00000637694.1:n.1681-5028G>A
ENST00000637825.1:n.1260+5552G>A
ENST00000638117.1:n.1680+5552G>A
ENST00000361727.7:c.1777+5552G>A	ENSP00000354778.3:n.1777+5552G>A
NM_014141.5:c.1777+5552G>A	NP_054860.1:n.1777+5552G>A
XM_006715919.1:c.265+5552G>A	XP_006715982.1:n.265+5552G>A
XM_017011950.2:c.1777+5552G>A	XP_016867439.1:n.1777+5552G>A
NM_014141.6:c.1777+5552G>A MANE Select	NP_054860.1:n.1777+5552G>A