Canonical Allele Identifier: CA2559607458
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882764A>T , CM000669.2:g.147882764A>T GRCh38
NC_000007.13:g.147579856A>T , CM000669.1:g.147579856A>T GRCh37
NC_000007.12:g.147210789A>T NCBI36
NG_007092.2:g.1771404A>T
NG_007092.3:g.1771764A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20801A>T MANE Select ENSP00000354778.3:n.2099-20801A>T
ENST00000636870.1:n.1961-20801A>T
ENST00000637825.1:n.1582-20801A>T
ENST00000361727.7:c.2099-20801A>T ENSP00000354778.3:n.2099-20801A>T
ENST00000455301.2:n.34-20801A>T
ENST00000627772.2:n.272-20801A>T
NM_014141.5:c.2099-20801A>T NP_054860.1:n.2099-20801A>T
XM_006715919.1:c.587-20801A>T XP_006715982.1:n.587-20801A>T
NM_014141.6:c.2099-20801A>T MANE Select NP_054860.1:n.2099-20801A>T