Canonical Allele Identifier: CA2716258248

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs2129285413

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132927T>G , CM000669.2:g.147132927T>G	GRCh38
NC_000007.13:g.146830019T>G , CM000669.1:g.146830019T>G	GRCh37
NC_000007.12:g.146460952T>G	NCBI36
NG_007092.2:g.1021567T>G
NG_007092.3:g.1021927T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+418T>G MANE Select	ENSP00000354778.3:n.1348+418T>G
ENST00000636561.1:n.1251+418T>G
ENST00000636870.1:n.1210+418T>G
ENST00000637150.1:n.1277+418T>G
ENST00000637694.1:n.1251+418T>G
ENST00000637825.1:n.831+418T>G
ENST00000638117.1:n.1251+418T>G
ENST00000361727.7:c.1348+418T>G	ENSP00000354778.3:n.1348+418T>G
NM_014141.5:c.1348+418T>G	NP_054860.1:n.1348+418T>G
XM_017011950.2:c.1348+418T>G	XP_016867439.1:n.1348+418T>G
NM_014141.6:c.1348+418T>G MANE Select	NP_054860.1:n.1348+418T>G