Canonical Allele Identifier: CA834864671
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1442685047

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147492685C>A , CM000669.2:g.147492685C>A GRCh38
NC_000007.13:g.147189777C>A , CM000669.1:g.147189777C>A GRCh37
NC_000007.12:g.146820710C>A NCBI36
NG_007092.2:g.1381325C>A
NG_007092.3:g.1381685C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+6644C>A MANE Select ENSP00000354778.3:n.1777+6644C>A
ENST00000636870.1:n.1639+6644C>A
ENST00000637694.1:n.1681-3936C>A
ENST00000637825.1:n.1260+6644C>A
ENST00000638117.1:n.1680+6644C>A
ENST00000361727.7:c.1777+6644C>A ENSP00000354778.3:n.1777+6644C>A
NM_014141.5:c.1777+6644C>A NP_054860.1:n.1777+6644C>A
XM_006715919.1:c.265+6644C>A XP_006715982.1:n.265+6644C>A
XM_017011950.2:c.1777+6644C>A XP_016867439.1:n.1777+6644C>A
NM_014141.6:c.1777+6644C>A MANE Select NP_054860.1:n.1777+6644C>A