Canonical Allele Identifier: CA2716166131
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2116718421
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882719C>A , CM000669.2:g.147882719C>A GRCh38
NC_000007.13:g.147579811C>A , CM000669.1:g.147579811C>A GRCh37
NC_000007.12:g.147210744C>A NCBI36
NG_007092.2:g.1771359C>A
NG_007092.3:g.1771719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20846C>A MANE Select ENSP00000354778.3:n.2099-20846C>A
ENST00000636870.1:n.1961-20846C>A
ENST00000637825.1:n.1582-20846C>A
ENST00000361727.7:c.2099-20846C>A ENSP00000354778.3:n.2099-20846C>A
ENST00000455301.2:n.34-20846C>A
ENST00000627772.2:n.272-20846C>A
NM_014141.5:c.2099-20846C>A NP_054860.1:n.2099-20846C>A
XM_006715919.1:c.587-20846C>A XP_006715982.1:n.587-20846C>A
NM_014141.6:c.2099-20846C>A MANE Select NP_054860.1:n.2099-20846C>A
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