Canonical Allele Identifier: CA369924993
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs956320440

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132497G>T , CM000669.2:g.147132497G>T GRCh38
NC_000007.13:g.146829589G>T , CM000669.1:g.146829589G>T GRCh37
NC_000007.12:g.146460522G>T NCBI36
NG_007092.2:g.1021137G>T
NG_007092.3:g.1021497G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1336G>T MANE Select ENSP00000354778.3:p.Asp446Tyr
ENST00000636561.1:n.1239G>T
ENST00000636870.1:n.1198G>T
ENST00000637150.1:n.1265G>T
ENST00000637694.1:n.1239G>T
ENST00000637825.1:n.819G>T
ENST00000638117.1:n.1239G>T
ENST00000361727.7:c.1336G>T ENSP00000354778.3:p.Asp446Tyr
NM_014141.5:c.1336G>T NP_054860.1:p.Asp446Tyr
XM_017011950.2:c.1336G>T XP_016867439.1:p.Asp446Tyr
NM_014141.6:c.1336G>T MANE Select NP_054860.1:p.Asp446Tyr