Canonical Allele Identifier: CA1750623700
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132245G= , CM000669.2:g.147132245G= GRCh38
NC_000007.13:g.146829337G= , CM000669.1:g.146829337G= GRCh37
NC_000007.12:g.146460270G= NCBI36
NG_007092.2:g.1020885G=
NG_007092.3:g.1021245G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1084G= MANE Select ENSP00000354778.3:p.Gly362=
ENST00000636561.1:n.987G=
ENST00000636870.1:n.946G=
ENST00000637150.1:n.1013G=
ENST00000637694.1:n.987G=
ENST00000637825.1:n.567G=
ENST00000638117.1:n.987G=
ENST00000361727.7:c.1084G= ENSP00000354778.3:p.Gly362=
NM_014141.5:c.1084G= NP_054860.1:p.Gly362=
XM_017011950.2:c.1084G= XP_016867439.1:p.Gly362=
NM_014141.6:c.1084G= MANE Select NP_054860.1:p.Gly362=