Canonical Allele Identifier: CA369924771
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132396T>G , CM000669.2:g.147132396T>G GRCh38
NC_000007.13:g.146829488T>G , CM000669.1:g.146829488T>G GRCh37
NC_000007.12:g.146460421T>G NCBI36
NG_007092.2:g.1021036T>G
NG_007092.3:g.1021396T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1235T>G MANE Select ENSP00000354778.3:p.Phe412Cys
ENST00000636561.1:n.1138T>G
ENST00000636870.1:n.1097T>G
ENST00000637150.1:n.1164T>G
ENST00000637694.1:n.1138T>G
ENST00000637825.1:n.718T>G
ENST00000638117.1:n.1138T>G
ENST00000361727.7:c.1235T>G ENSP00000354778.3:p.Phe412Cys
NM_014141.5:c.1235T>G NP_054860.1:p.Phe412Cys
XM_017011950.2:c.1235T>G XP_016867439.1:p.Phe412Cys
NM_014141.6:c.1235T>G MANE Select NP_054860.1:p.Phe412Cys