Canonical Allele Identifier: CA168690935

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs891225424
• MyVariant Identifiers: chr7:g.146829795A>G (hg19) ; chr7:g.147132703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132703A>G , CM000669.2:g.147132703A>G	GRCh38
NC_000007.13:g.146829795A>G , CM000669.1:g.146829795A>G	GRCh37
NC_000007.12:g.146460728A>G	NCBI36
NG_007092.2:g.1021343A>G
NG_007092.3:g.1021703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+194A>G MANE Select	ENSP00000354778.3:n.1348+194A>G
ENST00000636561.1:n.1251+194A>G
ENST00000636870.1:n.1210+194A>G
ENST00000637150.1:n.1277+194A>G
ENST00000637694.1:n.1251+194A>G
ENST00000637825.1:n.831+194A>G
ENST00000638117.1:n.1251+194A>G
ENST00000361727.7:c.1348+194A>G	ENSP00000354778.3:n.1348+194A>G
NM_014141.5:c.1348+194A>G	NP_054860.1:n.1348+194A>G
XM_017011950.2:c.1348+194A>G	XP_016867439.1:n.1348+194A>G
NM_014141.6:c.1348+194A>G MANE Select	NP_054860.1:n.1348+194A>G