Canonical Allele Identifier: CA1750436571
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778028T= , CM000669.2:g.146778028T= GRCh38
NC_000007.13:g.146475120T= , CM000669.1:g.146475120T= GRCh37
NC_000007.12:g.146106053T= NCBI36
NG_007092.2:g.666668T=
NG_007092.3:g.667028T=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+3647T= MANE Select ENSP00000354778.3:n.208+3647T=
ENST00000636277.1:n.75+3647T=
ENST00000636561.1:n.111+3647T=
ENST00000636600.1:n.58+3647T=
ENST00000637150.1:n.137+3647T=
ENST00000637694.1:n.111+3647T=
ENST00000638117.1:n.111+3647T=
ENST00000361727.7:c.208+3647T= ENSP00000354778.3:n.208+3647T=
ENST00000625365.2:c.208+3647T= ENSP00000485955.1:n.208+3647T=
NM_014141.5:c.208+3647T= NP_054860.1:n.208+3647T=
XM_017011950.2:c.208+3647T= XP_016867439.1:n.208+3647T=
NM_014141.6:c.208+3647T= MANE Select NP_054860.1:n.208+3647T=