Canonical Allele Identifier: CA1108356513
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802691475

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792445C>G , CM000669.2:g.146792445C>G GRCh38
NC_000007.13:g.146489537C>G , CM000669.1:g.146489537C>G GRCh37
NC_000007.12:g.146120470C>G NCBI36
NG_007092.2:g.681085C>G
NG_007092.3:g.681445C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18064C>G MANE Select ENSP00000354778.3:n.208+18064C>G
ENST00000636561.1:n.111+18064C>G
ENST00000637150.1:n.137+18064C>G
ENST00000637694.1:n.111+18064C>G
ENST00000638117.1:n.111+18064C>G
ENST00000361727.7:c.208+18064C>G ENSP00000354778.3:n.208+18064C>G
ENST00000625365.2:c.208+18064C>G ENSP00000485955.1:n.208+18064C>G
NM_014141.5:c.208+18064C>G NP_054860.1:n.208+18064C>G
XM_017011950.2:c.208+18064C>G XP_016867439.1:n.208+18064C>G
NM_014141.6:c.208+18064C>G MANE Select NP_054860.1:n.208+18064C>G