Canonical Allele Identifier: CA1750841516
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571041G= , CM000669.2:g.147571041G= GRCh38
NC_000007.13:g.147268133G= , CM000669.1:g.147268133G= GRCh37
NC_000007.12:g.146899066G= NCBI36
NG_007092.2:g.1459681G=
NG_007092.3:g.1460041G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8784G= MANE Select ENSP00000354778.3:n.1897+8784G=
ENST00000636870.1:n.1759+8784G=
ENST00000637825.1:n.1380+8784G=
ENST00000638117.1:n.1800+8784G=
ENST00000361727.7:c.1897+8784G= ENSP00000354778.3:n.1897+8784G=
NM_014141.5:c.1897+8784G= NP_054860.1:n.1897+8784G=
XM_006715919.1:c.385+8784G= XP_006715982.1:n.385+8784G=
XM_017011950.2:c.1897+8784G= XP_016867439.1:n.1897+8784G=
NM_014141.6:c.1897+8784G= MANE Select NP_054860.1:n.1897+8784G=
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