Canonical Allele Identifier: CA168740500
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147529799G>A , CM000669.2:g.147529799G>A GRCh38
NC_000007.13:g.147226891G>A , CM000669.1:g.147226891G>A GRCh37
NC_000007.12:g.146857824G>A NCBI36
NG_007092.2:g.1418439G>A
NG_007092.3:g.1418799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1778-32339G>A MANE Select ENSP00000354778.3:n.1778-32339G>A
ENST00000636870.1:n.1640-32339G>A
ENST00000637825.1:n.1261-32339G>A
ENST00000638117.1:n.1681-32339G>A
ENST00000361727.7:c.1778-32339G>A ENSP00000354778.3:n.1778-32339G>A
NM_014141.5:c.1778-32339G>A NP_054860.1:n.1778-32339G>A
XM_006715919.1:c.266-32339G>A XP_006715982.1:n.266-32339G>A
XM_017011950.2:c.1778-32339G>A XP_016867439.1:n.1778-32339G>A
NM_014141.6:c.1778-32339G>A MANE Select NP_054860.1:n.1778-32339G>A