Canonical Allele Identifier: CA1751005495
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800203610

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147918575A>C , CM000669.2:g.147918575A>C GRCh38
NC_000007.13:g.147615667A>C , CM000669.1:g.147615667A>C GRCh37
NC_000007.12:g.147246600A>C NCBI36
NG_007092.2:g.1807215A>C
NG_007092.3:g.1807575A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+14854A>C MANE Select ENSP00000354778.3:n.2255+14854A>C
ENST00000636870.1:n.2117+14854A>C
ENST00000637825.1:n.1738+14854A>C
ENST00000361727.7:c.2255+14854A>C ENSP00000354778.3:n.2255+14854A>C
ENST00000455301.2:n.190+14854A>C
ENST00000627772.2:n.428+14854A>C
NM_014141.5:c.2255+14854A>C NP_054860.1:n.2255+14854A>C
XM_006715919.1:c.743+14854A>C XP_006715982.1:n.743+14854A>C
NM_014141.6:c.2255+14854A>C MANE Select NP_054860.1:n.2255+14854A>C