Canonical Allele Identifier: CA2580595572
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147878020A>T , CM000669.2:g.147878020A>T GRCh38
NC_000007.13:g.147575112A>T , CM000669.1:g.147575112A>T GRCh37
NC_000007.12:g.147206045A>T NCBI36
NG_007092.2:g.1766660A>T
NG_007092.3:g.1767020A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25545A>T MANE Select ENSP00000354778.3:n.2099-25545A>T
ENST00000636870.1:n.1961-25545A>T
ENST00000637825.1:n.1582-25545A>T
ENST00000361727.7:c.2099-25545A>T ENSP00000354778.3:n.2099-25545A>T
ENST00000455301.2:n.34-25545A>T
ENST00000627772.2:n.272-25545A>T
NM_014141.5:c.2099-25545A>T NP_054860.1:n.2099-25545A>T
XM_006715919.1:c.587-25545A>T XP_006715982.1:n.587-25545A>T
NM_014141.6:c.2099-25545A>T MANE Select NP_054860.1:n.2099-25545A>T
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