Canonical Allele Identifier: CA1750805280
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1798612194

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147491686A>T , CM000669.2:g.147491686A>T GRCh38
NC_000007.13:g.147188778A>T , CM000669.1:g.147188778A>T GRCh37
NC_000007.12:g.146819711A>T NCBI36
NG_007092.2:g.1380326A>T
NG_007092.3:g.1380686A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+5645A>T MANE Select ENSP00000354778.3:n.1777+5645A>T
ENST00000636870.1:n.1639+5645A>T
ENST00000637694.1:n.1681-4935A>T
ENST00000637825.1:n.1260+5645A>T
ENST00000638117.1:n.1680+5645A>T
ENST00000361727.7:c.1777+5645A>T ENSP00000354778.3:n.1777+5645A>T
NM_014141.5:c.1777+5645A>T NP_054860.1:n.1777+5645A>T
XM_006715919.1:c.265+5645A>T XP_006715982.1:n.265+5645A>T
XM_017011950.2:c.1777+5645A>T XP_016867439.1:n.1777+5645A>T
NM_014141.6:c.1777+5645A>T MANE Select NP_054860.1:n.1777+5645A>T