Canonical Allele Identifier: CA1750436694
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778293T= , CM000669.2:g.146778293T= GRCh38
NC_000007.13:g.146475385T= , CM000669.1:g.146475385T= GRCh37
NC_000007.12:g.146106318T= NCBI36
NG_007092.2:g.666933T=
NG_007092.3:g.667293T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3912T= MANE Select ENSP00000354778.3:n.208+3912T=
ENST00000636277.1:n.75+3912T=
ENST00000636561.1:n.111+3912T=
ENST00000636600.1:n.58+3912T=
ENST00000637150.1:n.137+3912T=
ENST00000637694.1:n.111+3912T=
ENST00000638117.1:n.111+3912T=
ENST00000361727.7:c.208+3912T= ENSP00000354778.3:n.208+3912T=
ENST00000625365.2:c.208+3912T= ENSP00000485955.1:n.208+3912T=
NM_014141.5:c.208+3912T= NP_054860.1:n.208+3912T=
XM_017011950.2:c.208+3912T= XP_016867439.1:n.208+3912T=
NM_014141.6:c.208+3912T= MANE Select NP_054860.1:n.208+3912T=