Canonical Allele Identifier: CA369924946
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132477A>T , CM000669.2:g.147132477A>T GRCh38
NC_000007.13:g.146829569A>T , CM000669.1:g.146829569A>T GRCh37
NC_000007.12:g.146460502A>T NCBI36
NG_007092.2:g.1021117A>T
NG_007092.3:g.1021477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1316A>T MANE Select ENSP00000354778.3:p.Gln439Leu
ENST00000636561.1:n.1219A>T
ENST00000636870.1:n.1178A>T
ENST00000637150.1:n.1245A>T
ENST00000637694.1:n.1219A>T
ENST00000637825.1:n.799A>T
ENST00000638117.1:n.1219A>T
ENST00000361727.7:c.1316A>T ENSP00000354778.3:p.Gln439Leu
NM_014141.5:c.1316A>T NP_054860.1:p.Gln439Leu
XM_017011950.2:c.1316A>T XP_016867439.1:p.Gln439Leu
NM_014141.6:c.1316A>T MANE Select NP_054860.1:p.Gln439Leu