Canonical Allele Identifier: CA1750841957
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571428T= , CM000669.2:g.147571428T= GRCh38
NC_000007.13:g.147268520T= , CM000669.1:g.147268520T= GRCh37
NC_000007.12:g.146899453T= NCBI36
NG_007092.2:g.1460068T=
NG_007092.3:g.1460428T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9171T= MANE Select ENSP00000354778.3:n.1897+9171T=
ENST00000636870.1:n.1759+9171T=
ENST00000637825.1:n.1380+9171T=
ENST00000638117.1:n.1800+9171T=
ENST00000361727.7:c.1897+9171T= ENSP00000354778.3:n.1897+9171T=
NM_014141.5:c.1897+9171T= NP_054860.1:n.1897+9171T=
XM_006715919.1:c.385+9171T= XP_006715982.1:n.385+9171T=
XM_017011950.2:c.1897+9171T= XP_016867439.1:n.1897+9171T=
NM_014141.6:c.1897+9171T= MANE Select NP_054860.1:n.1897+9171T=
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