Canonical Allele Identifier: CA2778344154
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877757T>G , CM000669.2:g.147877757T>G GRCh38
NC_000007.13:g.147574849T>G , CM000669.1:g.147574849T>G GRCh37
NC_000007.12:g.147205782T>G NCBI36
NG_007092.2:g.1766397T>G
NG_007092.3:g.1766757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25808T>G MANE Select ENSP00000354778.3:n.2099-25808T>G
ENST00000636870.1:n.1961-25808T>G
ENST00000637825.1:n.1582-25808T>G
ENST00000361727.7:c.2099-25808T>G ENSP00000354778.3:n.2099-25808T>G
ENST00000455301.2:n.34-25808T>G
ENST00000627772.2:n.272-25808T>G
NM_014141.5:c.2099-25808T>G NP_054860.1:n.2099-25808T>G
XM_006715919.1:c.587-25808T>G XP_006715982.1:n.587-25808T>G
NM_014141.6:c.2099-25808T>G MANE Select NP_054860.1:n.2099-25808T>G