Canonical Allele Identifier: CA2778344487
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882698C>A , CM000669.2:g.147882698C>A GRCh38
NC_000007.13:g.147579790C>A , CM000669.1:g.147579790C>A GRCh37
NC_000007.12:g.147210723C>A NCBI36
NG_007092.2:g.1771338C>A
NG_007092.3:g.1771698C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20867C>A MANE Select ENSP00000354778.3:n.2099-20867C>A
ENST00000636870.1:n.1961-20867C>A
ENST00000637825.1:n.1582-20867C>A
ENST00000361727.7:c.2099-20867C>A ENSP00000354778.3:n.2099-20867C>A
ENST00000455301.2:n.34-20867C>A
ENST00000627772.2:n.272-20867C>A
NM_014141.5:c.2099-20867C>A NP_054860.1:n.2099-20867C>A
XM_006715919.1:c.587-20867C>A XP_006715982.1:n.587-20867C>A
NM_014141.6:c.2099-20867C>A MANE Select NP_054860.1:n.2099-20867C>A