Canonical Allele Identifier: CA578849308

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1168309379
• gnomAD v2: 7-147189674-G-A
• gnomAD v3: 7-147492582-G-A
• gnomAD v4: 7-147492582-G-A
• MyVariant Identifiers: chr7:g.147189674G>A (hg19) ; chr7:g.147492582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492582G>A , CM000669.2:g.147492582G>A	GRCh38
NC_000007.13:g.147189674G>A , CM000669.1:g.147189674G>A	GRCh37
NC_000007.12:g.146820607G>A	NCBI36
NG_007092.2:g.1381222G>A
NG_007092.3:g.1381582G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+6541G>A MANE Select	ENSP00000354778.3:n.1777+6541G>A
ENST00000636870.1:n.1639+6541G>A
ENST00000637694.1:n.1681-4039G>A
ENST00000637825.1:n.1260+6541G>A
ENST00000638117.1:n.1680+6541G>A
ENST00000361727.7:c.1777+6541G>A	ENSP00000354778.3:n.1777+6541G>A
NM_014141.5:c.1777+6541G>A	NP_054860.1:n.1777+6541G>A
XM_006715919.1:c.265+6541G>A	XP_006715982.1:n.265+6541G>A
XM_017011950.2:c.1777+6541G>A	XP_016867439.1:n.1777+6541G>A
NM_014141.6:c.1777+6541G>A MANE Select	NP_054860.1:n.1777+6541G>A