Canonical Allele Identifier: CA2716261518
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2129186582

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778099_146778100dup , CM000669.2:g.146778099_146778100dup GRCh38
NC_000007.13:g.146475191_146475192dup , CM000669.1:g.146475191_146475192dup GRCh37
NC_000007.12:g.146106124_146106125dup NCBI36
NG_007092.2:g.666739_666740dup
NG_007092.3:g.667099_667100dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3718_208+3719dup MANE Select ENSP00000354778.3:n.208+3718_208+3719dup
ENST00000636277.1:n.75+3718_75+3719dup
ENST00000636561.1:n.111+3718_111+3719dup
ENST00000636600.1:n.58+3718_58+3719dup
ENST00000637150.1:n.137+3718_137+3719dup
ENST00000637694.1:n.111+3718_111+3719dup
ENST00000638117.1:n.111+3718_111+3719dup
ENST00000361727.7:c.208+3718_208+3719dup ENSP00000354778.3:n.208+3718_208+3719dup
ENST00000625365.2:c.208+3718_208+3719dup ENSP00000485955.1:n.208+3718_208+3719dup
NM_014141.5:c.208+3718_208+3719dup NP_054860.1:n.208+3718_208+3719dup
XM_017011950.2:c.208+3718_208+3719dup XP_016867439.1:n.208+3718_208+3719dup
NM_014141.6:c.208+3718_208+3719dup MANE Select NP_054860.1:n.208+3718_208+3719dup