Canonical Allele Identifier: CA1750654931
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200476C= , CM000669.2:g.147200476C= GRCh38
NC_000007.13:g.146897568C= , CM000669.1:g.146897568C= GRCh37
NC_000007.12:g.146528501C= NCBI36
NG_007092.2:g.1089116C=
NG_007092.3:g.1089476C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+67967C= MANE Select ENSP00000354778.3:n.1348+67967C=
ENST00000636870.1:n.1210+67967C=
ENST00000637694.1:n.1251+67967C=
ENST00000637825.1:n.831+67967C=
ENST00000638117.1:n.1251+67967C=
ENST00000361727.7:c.1348+67967C= ENSP00000354778.3:n.1348+67967C=
NM_014141.5:c.1348+67967C= NP_054860.1:n.1348+67967C=
XM_017011950.2:c.1348+67967C= XP_016867439.1:n.1348+67967C=
NM_014141.6:c.1348+67967C= MANE Select NP_054860.1:n.1348+67967C=