Canonical Allele Identifier: CA1750623856
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132308T= , CM000669.2:g.147132308T= GRCh38
NC_000007.13:g.146829400T= , CM000669.1:g.146829400T= GRCh37
NC_000007.12:g.146460333T= NCBI36
NG_007092.2:g.1020948T=
NG_007092.3:g.1021308T=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1147T= MANE Select ENSP00000354778.3:p.Tyr383=
ENST00000636561.1:n.1050T=
ENST00000636870.1:n.1009T=
ENST00000637150.1:n.1076T=
ENST00000637694.1:n.1050T=
ENST00000637825.1:n.630T=
ENST00000638117.1:n.1050T=
ENST00000361727.7:c.1147T= ENSP00000354778.3:p.Tyr383=
NM_014141.5:c.1147T= NP_054860.1:p.Tyr383=
XM_017011950.2:c.1147T= XP_016867439.1:p.Tyr383=
NM_014141.6:c.1147T= MANE Select NP_054860.1:p.Tyr383=