Canonical Allele Identifier: CA369924902
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132458G>T , CM000669.2:g.147132458G>T GRCh38
NC_000007.13:g.146829550G>T , CM000669.1:g.146829550G>T GRCh37
NC_000007.12:g.146460483G>T NCBI36
NG_007092.2:g.1021098G>T
NG_007092.3:g.1021458G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1297G>T MANE Select ENSP00000354778.3:p.Val433Phe
ENST00000636561.1:n.1200G>T
ENST00000636870.1:n.1159G>T
ENST00000637150.1:n.1226G>T
ENST00000637694.1:n.1200G>T
ENST00000637825.1:n.780G>T
ENST00000638117.1:n.1200G>T
ENST00000361727.7:c.1297G>T ENSP00000354778.3:p.Val433Phe
NM_014141.5:c.1297G>T NP_054860.1:p.Val433Phe
XM_017011950.2:c.1297G>T XP_016867439.1:p.Val433Phe
NM_014141.6:c.1297G>T MANE Select NP_054860.1:p.Val433Phe