Canonical Allele Identifier: CA1750805304
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147491722T= , CM000669.2:g.147491722T= GRCh38
NC_000007.13:g.147188814T= , CM000669.1:g.147188814T= GRCh37
NC_000007.12:g.146819747T= NCBI36
NG_007092.2:g.1380362T=
NG_007092.3:g.1380722T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+5681T= MANE Select ENSP00000354778.3:n.1777+5681T=
ENST00000636870.1:n.1639+5681T=
ENST00000637694.1:n.1681-4899T=
ENST00000637825.1:n.1260+5681T=
ENST00000638117.1:n.1680+5681T=
ENST00000361727.7:c.1777+5681T= ENSP00000354778.3:n.1777+5681T=
NM_014141.5:c.1777+5681T= NP_054860.1:n.1777+5681T=
XM_006715919.1:c.265+5681T= XP_006715982.1:n.265+5681T=
XM_017011950.2:c.1777+5681T= XP_016867439.1:n.1777+5681T=
NM_014141.6:c.1777+5681T= MANE Select NP_054860.1:n.1777+5681T=
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