Canonical Allele Identifier: CA2563571510
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147878035G>A , CM000669.2:g.147878035G>A GRCh38
NC_000007.13:g.147575127G>A , CM000669.1:g.147575127G>A GRCh37
NC_000007.12:g.147206060G>A NCBI36
NG_007092.2:g.1766675G>A
NG_007092.3:g.1767035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25530G>A MANE Select ENSP00000354778.3:n.2099-25530G>A
ENST00000636870.1:n.1961-25530G>A
ENST00000637825.1:n.1582-25530G>A
ENST00000361727.7:c.2099-25530G>A ENSP00000354778.3:n.2099-25530G>A
ENST00000455301.2:n.34-25530G>A
ENST00000627772.2:n.272-25530G>A
NM_014141.5:c.2099-25530G>A NP_054860.1:n.2099-25530G>A
XM_006715919.1:c.587-25530G>A XP_006715982.1:n.587-25530G>A
NM_014141.6:c.2099-25530G>A MANE Select NP_054860.1:n.2099-25530G>A
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