Canonical Allele Identifier: CA1750624286
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132424T= , CM000669.2:g.147132424T= GRCh38
NC_000007.13:g.146829516T= , CM000669.1:g.146829516T= GRCh37
NC_000007.12:g.146460449T= NCBI36
NG_007092.2:g.1021064T=
NG_007092.3:g.1021424T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1263T= MANE Select ENSP00000354778.3:p.Asn421=
ENST00000636561.1:n.1166T=
ENST00000636870.1:n.1125T=
ENST00000637150.1:n.1192T=
ENST00000637694.1:n.1166T=
ENST00000637825.1:n.746T=
ENST00000638117.1:n.1166T=
ENST00000361727.7:c.1263T= ENSP00000354778.3:p.Asn421=
NM_014141.5:c.1263T= NP_054860.1:p.Asn421=
XM_017011950.2:c.1263T= XP_016867439.1:p.Asn421=
NM_014141.6:c.1263T= MANE Select NP_054860.1:p.Asn421=