Canonical Allele Identifier: CA369925007
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132504C>A , CM000669.2:g.147132504C>A GRCh38
NC_000007.13:g.146829596C>A , CM000669.1:g.146829596C>A GRCh37
NC_000007.12:g.146460529C>A NCBI36
NG_007092.2:g.1021144C>A
NG_007092.3:g.1021504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1343C>A MANE Select ENSP00000354778.3:p.Ser448Tyr
ENST00000636561.1:n.1246C>A
ENST00000636870.1:n.1205C>A
ENST00000637150.1:n.1272C>A
ENST00000637694.1:n.1246C>A
ENST00000637825.1:n.826C>A
ENST00000638117.1:n.1246C>A
ENST00000361727.7:c.1343C>A ENSP00000354778.3:p.Ser448Tyr
NM_014141.5:c.1343C>A NP_054860.1:p.Ser448Tyr
XM_017011950.2:c.1343C>A XP_016867439.1:p.Ser448Tyr
NM_014141.6:c.1343C>A MANE Select NP_054860.1:p.Ser448Tyr