Canonical Allele Identifier: CA369925013
Gene: CNTNAP2 HGNC NCBI

Linked Data

COSMIC: COSM353499

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1346C>T MANE Select ENSP00000354778.3:p.Ser449Leu
ENST00000636561.1:n.1249C>T
ENST00000636870.1:n.1208C>T
ENST00000637150.1:n.1275C>T
ENST00000637694.1:n.1249C>T
ENST00000637825.1:n.829C>T
ENST00000638117.1:n.1249C>T
ENST00000361727.7:c.1346C>T ENSP00000354778.3:p.Ser449Leu
NM_014141.5:c.1346C>T NP_054860.1:p.Ser449Leu
XM_017011950.2:c.1346C>T XP_016867439.1:p.Ser449Leu
NM_014141.6:c.1346C>T MANE Select NP_054860.1:p.Ser449Leu