Canonical Allele Identifier: CA1108356514
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802691518

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792447T>G , CM000669.2:g.146792447T>G GRCh38
NC_000007.13:g.146489539T>G , CM000669.1:g.146489539T>G GRCh37
NC_000007.12:g.146120472T>G NCBI36
NG_007092.2:g.681087T>G
NG_007092.3:g.681447T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18066T>G MANE Select ENSP00000354778.3:n.208+18066T>G
ENST00000636561.1:n.111+18066T>G
ENST00000637150.1:n.137+18066T>G
ENST00000637694.1:n.111+18066T>G
ENST00000638117.1:n.111+18066T>G
ENST00000361727.7:c.208+18066T>G ENSP00000354778.3:n.208+18066T>G
ENST00000625365.2:c.208+18066T>G ENSP00000485955.1:n.208+18066T>G
NM_014141.5:c.208+18066T>G NP_054860.1:n.208+18066T>G
XM_017011950.2:c.208+18066T>G XP_016867439.1:n.208+18066T>G
NM_014141.6:c.208+18066T>G MANE Select NP_054860.1:n.208+18066T>G