Canonical Allele Identifier: CA369924868
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132443G>C , CM000669.2:g.147132443G>C GRCh38
NC_000007.13:g.146829535G>C , CM000669.1:g.146829535G>C GRCh37
NC_000007.12:g.146460468G>C NCBI36
NG_007092.2:g.1021083G>C
NG_007092.3:g.1021443G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1282G>C MANE Select ENSP00000354778.3:p.Glu428Gln
ENST00000636561.1:n.1185G>C
ENST00000636870.1:n.1144G>C
ENST00000637150.1:n.1211G>C
ENST00000637694.1:n.1185G>C
ENST00000637825.1:n.765G>C
ENST00000638117.1:n.1185G>C
ENST00000361727.7:c.1282G>C ENSP00000354778.3:p.Glu428Gln
NM_014141.5:c.1282G>C NP_054860.1:p.Glu428Gln
XM_017011950.2:c.1282G>C XP_016867439.1:p.Glu428Gln
NM_014141.6:c.1282G>C MANE Select NP_054860.1:p.Glu428Gln