Canonical Allele Identifier: CA1750619901
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132816A= , CM000669.2:g.147132816A= GRCh38
NC_000007.13:g.146829908A= , CM000669.1:g.146829908A= GRCh37
NC_000007.12:g.146460841A= NCBI36
NG_007092.2:g.1021456A=
NG_007092.3:g.1021816A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+307A= MANE Select ENSP00000354778.3:n.1348+307A=
ENST00000636561.1:n.1251+307A=
ENST00000636870.1:n.1210+307A=
ENST00000637150.1:n.1277+307A=
ENST00000637694.1:n.1251+307A=
ENST00000637825.1:n.831+307A=
ENST00000638117.1:n.1251+307A=
ENST00000361727.7:c.1348+307A= ENSP00000354778.3:n.1348+307A=
NM_014141.5:c.1348+307A= NP_054860.1:n.1348+307A=
XM_017011950.2:c.1348+307A= XP_016867439.1:n.1348+307A=
NM_014141.6:c.1348+307A= MANE Select NP_054860.1:n.1348+307A=