Canonical Allele Identifier: CA1750841583
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571106T= , CM000669.2:g.147571106T= GRCh38
NC_000007.13:g.147268198T= , CM000669.1:g.147268198T= GRCh37
NC_000007.12:g.146899131T= NCBI36
NG_007092.2:g.1459746T=
NG_007092.3:g.1460106T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8849T= MANE Select ENSP00000354778.3:n.1897+8849T=
ENST00000636870.1:n.1759+8849T=
ENST00000637825.1:n.1380+8849T=
ENST00000638117.1:n.1800+8849T=
ENST00000361727.7:c.1897+8849T= ENSP00000354778.3:n.1897+8849T=
NM_014141.5:c.1897+8849T= NP_054860.1:n.1897+8849T=
XM_006715919.1:c.385+8849T= XP_006715982.1:n.385+8849T=
XM_017011950.2:c.1897+8849T= XP_016867439.1:n.1897+8849T=
NM_014141.6:c.1897+8849T= MANE Select NP_054860.1:n.1897+8849T=
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