Canonical Allele Identifier: CA2716261945
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2129189349
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792477T>A , CM000669.2:g.146792477T>A GRCh38
NC_000007.13:g.146489569T>A , CM000669.1:g.146489569T>A GRCh37
NC_000007.12:g.146120502T>A NCBI36
NG_007092.2:g.681117T>A
NG_007092.3:g.681477T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+18096T>A MANE Select ENSP00000354778.3:n.208+18096T>A
ENST00000636561.1:n.111+18096T>A
ENST00000637150.1:n.137+18096T>A
ENST00000637694.1:n.111+18096T>A
ENST00000638117.1:n.111+18096T>A
ENST00000361727.7:c.208+18096T>A ENSP00000354778.3:n.208+18096T>A
ENST00000625365.2:c.208+18096T>A ENSP00000485955.1:n.208+18096T>A
NM_014141.5:c.208+18096T>A NP_054860.1:n.208+18096T>A
XM_017011950.2:c.208+18096T>A XP_016867439.1:n.208+18096T>A
NM_014141.6:c.208+18096T>A MANE Select NP_054860.1:n.208+18096T>A
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