Canonical Allele Identifier: CA1750993316
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799924454
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904400G>A , CM000669.2:g.147904400G>A GRCh38
NC_000007.13:g.147601492G>A , CM000669.1:g.147601492G>A GRCh37
NC_000007.12:g.147232425G>A NCBI36
NG_007092.2:g.1793040G>A
NG_007092.3:g.1793400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+679G>A MANE Select ENSP00000354778.3:n.2255+679G>A
ENST00000636870.1:n.2117+679G>A
ENST00000637825.1:n.1738+679G>A
ENST00000361727.7:c.2255+679G>A ENSP00000354778.3:n.2255+679G>A
ENST00000455301.2:n.190+679G>A
ENST00000627772.2:n.428+679G>A
NM_014141.5:c.2255+679G>A NP_054860.1:n.2255+679G>A
XM_006715919.1:c.743+679G>A XP_006715982.1:n.743+679G>A
NM_014141.6:c.2255+679G>A MANE Select NP_054860.1:n.2255+679G>A
Search 100 bp 5'
Search 100 bp 3'