Canonical Allele Identifier: CA369924297
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128771A>T , CM000669.2:g.147128771A>T GRCh38
NC_000007.13:g.146825863A>T , CM000669.1:g.146825863A>T GRCh37
NC_000007.12:g.146456796A>T NCBI36
NG_007092.2:g.1017411A>T
NG_007092.3:g.1017771A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1018A>T MANE Select ENSP00000354778.3:p.Ile340Phe
ENST00000636561.1:n.921A>T
ENST00000636870.1:n.880A>T
ENST00000637150.1:n.947A>T
ENST00000637694.1:n.921A>T
ENST00000637825.1:n.501A>T
ENST00000638117.1:n.921A>T
ENST00000361727.7:c.1018A>T ENSP00000354778.3:p.Ile340Phe
NM_014141.5:c.1018A>T NP_054860.1:p.Ile340Phe
XM_017011950.2:c.1018A>T XP_016867439.1:p.Ile340Phe
NM_014141.6:c.1018A>T MANE Select NP_054860.1:p.Ile340Phe