Canonical Allele Identifier: CA168788382

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1036927790
• gnomAD v2: 7-147615645-C-A
• gnomAD v3: 7-147918553-C-A
• gnomAD v4: 7-147918553-C-A
• MyVariant Identifiers: chr7:g.147615645C>A (hg19) ; chr7:g.147918553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147918553C>A , CM000669.2:g.147918553C>A	GRCh38
NC_000007.13:g.147615645C>A , CM000669.1:g.147615645C>A	GRCh37
NC_000007.12:g.147246578C>A	NCBI36
NG_007092.2:g.1807193C>A
NG_007092.3:g.1807553C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2255+14832C>A MANE Select	ENSP00000354778.3:n.2255+14832C>A
ENST00000636870.1:n.2117+14832C>A
ENST00000637825.1:n.1738+14832C>A
ENST00000361727.7:c.2255+14832C>A	ENSP00000354778.3:n.2255+14832C>A
ENST00000455301.2:n.190+14832C>A
ENST00000627772.2:n.428+14832C>A
NM_014141.5:c.2255+14832C>A	NP_054860.1:n.2255+14832C>A
XM_006715919.1:c.743+14832C>A	XP_006715982.1:n.743+14832C>A
NM_014141.6:c.2255+14832C>A MANE Select	NP_054860.1:n.2255+14832C>A