Canonical Allele Identifier: CA2778317856
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778395G>C , CM000669.2:g.146778395G>C GRCh38
NC_000007.13:g.146475487G>C , CM000669.1:g.146475487G>C GRCh37
NC_000007.12:g.146106420G>C NCBI36
NG_007092.2:g.667035G>C
NG_007092.3:g.667395G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+4014G>C MANE Select ENSP00000354778.3:n.208+4014G>C
ENST00000636277.1:n.75+4014G>C
ENST00000636561.1:n.111+4014G>C
ENST00000636600.1:n.59-3814G>C
ENST00000637150.1:n.137+4014G>C
ENST00000637694.1:n.111+4014G>C
ENST00000638117.1:n.111+4014G>C
ENST00000361727.7:c.208+4014G>C ENSP00000354778.3:n.208+4014G>C
ENST00000625365.2:c.208+4014G>C ENSP00000485955.1:n.208+4014G>C
NM_014141.5:c.208+4014G>C NP_054860.1:n.208+4014G>C
XM_017011950.2:c.208+4014G>C XP_016867439.1:n.208+4014G>C
NM_014141.6:c.208+4014G>C MANE Select NP_054860.1:n.208+4014G>C