Canonical Allele Identifier: CA652145528
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877783T>C , CM000669.2:g.147877783T>C GRCh38
NC_000007.13:g.147574875T>C , CM000669.1:g.147574875T>C GRCh37
NC_000007.12:g.147205808T>C NCBI36
NG_007092.2:g.1766423T>C
NG_007092.3:g.1766783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25782T>C MANE Select ENSP00000354778.3:n.2099-25782T>C
ENST00000636870.1:n.1961-25782T>C
ENST00000637825.1:n.1582-25782T>C
ENST00000361727.7:c.2099-25782T>C ENSP00000354778.3:n.2099-25782T>C
ENST00000455301.2:n.34-25782T>C
ENST00000627772.2:n.272-25782T>C
NM_014141.5:c.2099-25782T>C NP_054860.1:n.2099-25782T>C
XM_006715919.1:c.587-25782T>C XP_006715982.1:n.587-25782T>C
NM_014141.6:c.2099-25782T>C MANE Select NP_054860.1:n.2099-25782T>C