Canonical Allele Identifier: CA2778317845
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778162G>T , CM000669.2:g.146778162G>T GRCh38
NC_000007.13:g.146475254G>T , CM000669.1:g.146475254G>T GRCh37
NC_000007.12:g.146106187G>T NCBI36
NG_007092.2:g.666802G>T
NG_007092.3:g.667162G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3781G>T MANE Select ENSP00000354778.3:n.208+3781G>T
ENST00000636277.1:n.75+3781G>T
ENST00000636561.1:n.111+3781G>T
ENST00000636600.1:n.58+3781G>T
ENST00000637150.1:n.137+3781G>T
ENST00000637694.1:n.111+3781G>T
ENST00000638117.1:n.111+3781G>T
ENST00000361727.7:c.208+3781G>T ENSP00000354778.3:n.208+3781G>T
ENST00000625365.2:c.208+3781G>T ENSP00000485955.1:n.208+3781G>T
NM_014141.5:c.208+3781G>T NP_054860.1:n.208+3781G>T
XM_017011950.2:c.208+3781G>T XP_016867439.1:n.208+3781G>T
NM_014141.6:c.208+3781G>T MANE Select NP_054860.1:n.208+3781G>T