Canonical Allele Identifier: CA369924978
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132491C>G , CM000669.2:g.147132491C>G GRCh38
NC_000007.13:g.146829583C>G , CM000669.1:g.146829583C>G GRCh37
NC_000007.12:g.146460516C>G NCBI36
NG_007092.2:g.1021131C>G
NG_007092.3:g.1021491C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1330C>G MANE Select ENSP00000354778.3:p.Gln444Glu
ENST00000636561.1:n.1233C>G
ENST00000636870.1:n.1192C>G
ENST00000637150.1:n.1259C>G
ENST00000637694.1:n.1233C>G
ENST00000637825.1:n.813C>G
ENST00000638117.1:n.1233C>G
ENST00000361727.7:c.1330C>G ENSP00000354778.3:p.Gln444Glu
NM_014141.5:c.1330C>G NP_054860.1:p.Gln444Glu
XM_017011950.2:c.1330C>G XP_016867439.1:p.Gln444Glu
NM_014141.6:c.1330C>G MANE Select NP_054860.1:p.Gln444Glu