Canonical Allele Identifier: CA1108470888
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147900074T>A , CM000669.2:g.147900074T>A GRCh38
NC_000007.13:g.147597166T>A , CM000669.1:g.147597166T>A GRCh37
NC_000007.12:g.147228099T>A NCBI36
NG_007092.2:g.1788714T>A
NG_007092.3:g.1789074T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-3491T>A MANE Select ENSP00000354778.3:n.2099-3491T>A
ENST00000636755.1:n.45+3001T>A
ENST00000636870.1:n.1961-3491T>A
ENST00000637654.1:n.63-3491T>A
ENST00000637825.1:n.1582-3491T>A
ENST00000361727.7:c.2099-3491T>A ENSP00000354778.3:n.2099-3491T>A
ENST00000455301.2:n.34-3491T>A
ENST00000627772.2:n.272-3491T>A
NM_014141.5:c.2099-3491T>A NP_054860.1:n.2099-3491T>A
XM_006715919.1:c.587-3491T>A XP_006715982.1:n.587-3491T>A
NM_014141.6:c.2099-3491T>A MANE Select NP_054860.1:n.2099-3491T>A