Canonical Allele Identifier: CA1750619952
Gene: CNTNAP2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132892T= , CM000669.2:g.147132892T= GRCh38
NC_000007.13:g.146829984T= , CM000669.1:g.146829984T= GRCh37
NC_000007.12:g.146460917T= NCBI36
NG_007092.2:g.1021532T=
NG_007092.3:g.1021892T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+383T= MANE Select ENSP00000354778.3:n.1348+383T=
ENST00000636561.1:n.1251+383T=
ENST00000636870.1:n.1210+383T=
ENST00000637150.1:n.1277+383T=
ENST00000637694.1:n.1251+383T=
ENST00000637825.1:n.831+383T=
ENST00000638117.1:n.1251+383T=
ENST00000361727.7:c.1348+383T= ENSP00000354778.3:n.1348+383T=
NM_014141.5:c.1348+383T= NP_054860.1:n.1348+383T=
XM_017011950.2:c.1348+383T= XP_016867439.1:n.1348+383T=
NM_014141.6:c.1348+383T= MANE Select NP_054860.1:n.1348+383T=
Search 100 bp 5'
Search 100 bp 3'