Canonical Allele Identifier: CA314116
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205241
ClinVar RCV Id: RCV000187182
dbSNP Id: rs796052374

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132507C>G , CM000669.2:g.147132507C>G GRCh38
NC_000007.13:g.146829599C>G , CM000669.1:g.146829599C>G GRCh37
NC_000007.12:g.146460532C>G NCBI36
NG_007092.2:g.1021147C>G
NG_007092.3:g.1021507C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1346C>G MANE Select ENSP00000354778.3:p.Ser449Ter
ENST00000636561.1:n.1249C>G
ENST00000636870.1:n.1208C>G
ENST00000637150.1:n.1275C>G
ENST00000637694.1:n.1249C>G
ENST00000637825.1:n.829C>G
ENST00000638117.1:n.1249C>G
ENST00000361727.7:c.1346C>G ENSP00000354778.3:p.Ser449Ter
NM_014141.5:c.1346C>G NP_054860.1:p.Ser449Ter
XM_017011950.2:c.1346C>G XP_016867439.1:p.Ser449Ter
NM_014141.6:c.1346C>G MANE Select NP_054860.1:p.Ser449Ter