Canonical Allele Identifier: CA458578052
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146829591T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132499T>C , CM000669.2:g.147132499T>C GRCh38
NC_000007.13:g.146829591T>C , CM000669.1:g.146829591T>C GRCh37
NC_000007.12:g.146460524T>C NCBI36
NG_007092.2:g.1021139T>C
NG_007092.3:g.1021499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1338T>C MANE Select ENSP00000354778.3:p.Asp446=
ENST00000636561.1:n.1241T>C
ENST00000636870.1:n.1200T>C
ENST00000637150.1:n.1267T>C
ENST00000637694.1:n.1241T>C
ENST00000637825.1:n.821T>C
ENST00000638117.1:n.1241T>C
ENST00000361727.7:c.1338T>C ENSP00000354778.3:p.Asp446=
NM_014141.5:c.1338T>C NP_054860.1:p.Asp446=
XM_017011950.2:c.1338T>C XP_016867439.1:p.Asp446=
NM_014141.6:c.1338T>C MANE Select NP_054860.1:p.Asp446=