Canonical Allele Identifier: CA578609803
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1322938549

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200596A>G , CM000669.2:g.147200596A>G GRCh38
NC_000007.13:g.146897688A>G , CM000669.1:g.146897688A>G GRCh37
NC_000007.12:g.146528621A>G NCBI36
NG_007092.2:g.1089236A>G
NG_007092.3:g.1089596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+68087A>G MANE Select ENSP00000354778.3:n.1348+68087A>G
ENST00000636870.1:n.1210+68087A>G
ENST00000637694.1:n.1251+68087A>G
ENST00000637825.1:n.831+68087A>G
ENST00000638117.1:n.1251+68087A>G
ENST00000361727.7:c.1348+68087A>G ENSP00000354778.3:n.1348+68087A>G
NM_014141.5:c.1348+68087A>G NP_054860.1:n.1348+68087A>G
XM_017011950.2:c.1348+68087A>G XP_016867439.1:n.1348+68087A>G
NM_014141.6:c.1348+68087A>G MANE Select NP_054860.1:n.1348+68087A>G