Canonical Allele Identifier: CA369924224
Gene: CNTNAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128742G>T , CM000669.2:g.147128742G>T GRCh38
NC_000007.13:g.146825834G>T , CM000669.1:g.146825834G>T GRCh37
NC_000007.12:g.146456767G>T NCBI36
NG_007092.2:g.1017382G>T
NG_007092.3:g.1017742G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.989G>T MANE Select ENSP00000354778.3:p.Arg330Ile
ENST00000636561.1:n.892G>T
ENST00000636870.1:n.851G>T
ENST00000637150.1:n.918G>T
ENST00000637694.1:n.892G>T
ENST00000637825.1:n.472G>T
ENST00000638117.1:n.892G>T
ENST00000361727.7:c.989G>T ENSP00000354778.3:p.Arg330Ile
NM_014141.5:c.989G>T NP_054860.1:p.Arg330Ile
XM_017011950.2:c.989G>T XP_016867439.1:p.Arg330Ile
NM_014141.6:c.989G>T MANE Select NP_054860.1:p.Arg330Ile