Canonical Allele Identifier: CA1108473083
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799930298

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904747C>T , CM000669.2:g.147904747C>T GRCh38
NC_000007.13:g.147601839C>T , CM000669.1:g.147601839C>T GRCh37
NC_000007.12:g.147232772C>T NCBI36
NG_007092.2:g.1793387C>T
NG_007092.3:g.1793747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+1026C>T MANE Select ENSP00000354778.3:n.2255+1026C>T
ENST00000636870.1:n.2117+1026C>T
ENST00000637825.1:n.1738+1026C>T
ENST00000361727.7:c.2255+1026C>T ENSP00000354778.3:n.2255+1026C>T
ENST00000455301.2:n.190+1026C>T
ENST00000627772.2:n.428+1026C>T
NM_014141.5:c.2255+1026C>T NP_054860.1:n.2255+1026C>T
XM_006715919.1:c.743+1026C>T XP_006715982.1:n.743+1026C>T
NM_014141.6:c.2255+1026C>T MANE Select NP_054860.1:n.2255+1026C>T