Canonical Allele Identifier: CA168735658

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs181359121
• gnomAD v2: 7-147188699-C-T
• gnomAD v3: 7-147491607-C-T
• gnomAD v4: 7-147491607-C-T
• MyVariant Identifiers: chr7:g.147188699C>T (hg19) ; chr7:g.147491607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491607C>T , CM000669.2:g.147491607C>T	GRCh38
NC_000007.13:g.147188699C>T , CM000669.1:g.147188699C>T	GRCh37
NC_000007.12:g.146819632C>T	NCBI36
NG_007092.2:g.1380247C>T
NG_007092.3:g.1380607C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5566C>T MANE Select	ENSP00000354778.3:n.1777+5566C>T
ENST00000636870.1:n.1639+5566C>T
ENST00000637694.1:n.1681-5014C>T
ENST00000637825.1:n.1260+5566C>T
ENST00000638117.1:n.1680+5566C>T
ENST00000361727.7:c.1777+5566C>T	ENSP00000354778.3:n.1777+5566C>T
NM_014141.5:c.1777+5566C>T	NP_054860.1:n.1777+5566C>T
XM_006715919.1:c.265+5566C>T	XP_006715982.1:n.265+5566C>T
XM_017011950.2:c.1777+5566C>T	XP_016867439.1:n.1777+5566C>T
NM_014141.6:c.1777+5566C>T MANE Select	NP_054860.1:n.1777+5566C>T