Canonical Allele Identifier: CA2778344167
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877962G>T , CM000669.2:g.147877962G>T GRCh38
NC_000007.13:g.147575054G>T , CM000669.1:g.147575054G>T GRCh37
NC_000007.12:g.147205987G>T NCBI36
NG_007092.2:g.1766602G>T
NG_007092.3:g.1766962G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25603G>T MANE Select ENSP00000354778.3:n.2099-25603G>T
ENST00000636870.1:n.1961-25603G>T
ENST00000637825.1:n.1582-25603G>T
ENST00000361727.7:c.2099-25603G>T ENSP00000354778.3:n.2099-25603G>T
ENST00000455301.2:n.34-25603G>T
ENST00000627772.2:n.272-25603G>T
NM_014141.5:c.2099-25603G>T NP_054860.1:n.2099-25603G>T
XM_006715919.1:c.587-25603G>T XP_006715982.1:n.587-25603G>T
NM_014141.6:c.2099-25603G>T MANE Select NP_054860.1:n.2099-25603G>T