Canonical Allele Identifier: CA458578051
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146829459G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132367G>A , CM000669.2:g.147132367G>A GRCh38
NC_000007.13:g.146829459G>A , CM000669.1:g.146829459G>A GRCh37
NC_000007.12:g.146460392G>A NCBI36
NG_007092.2:g.1021007G>A
NG_007092.3:g.1021367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1206G>A MANE Select ENSP00000354778.3:p.Arg402=
ENST00000636561.1:n.1109G>A
ENST00000636870.1:n.1068G>A
ENST00000637150.1:n.1135G>A
ENST00000637694.1:n.1109G>A
ENST00000637825.1:n.689G>A
ENST00000638117.1:n.1109G>A
ENST00000361727.7:c.1206G>A ENSP00000354778.3:p.Arg402=
NM_014141.5:c.1206G>A NP_054860.1:p.Arg402=
XM_017011950.2:c.1206G>A XP_016867439.1:p.Arg402=
NM_014141.6:c.1206G>A MANE Select NP_054860.1:p.Arg402=