Canonical Allele Identifier: CA369924579

Gene: CNTNAP2

Linked Data

• COSMIC: COSM1448922
• MyVariant Identifiers: chr7:g.146829398G>T (hg19) ; chr7:g.147132306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132306G>T , CM000669.2:g.147132306G>T	GRCh38
NC_000007.13:g.146829398G>T , CM000669.1:g.146829398G>T	GRCh37
NC_000007.12:g.146460331G>T	NCBI36
NG_007092.2:g.1020946G>T
NG_007092.3:g.1021306G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1145G>T MANE Select	ENSP00000354778.3:p.Ser382Ile
ENST00000636561.1:n.1048G>T
ENST00000636870.1:n.1007G>T
ENST00000637150.1:n.1074G>T
ENST00000637694.1:n.1048G>T
ENST00000637825.1:n.628G>T
ENST00000638117.1:n.1048G>T
ENST00000361727.7:c.1145G>T	ENSP00000354778.3:p.Ser382Ile
NM_014141.5:c.1145G>T	NP_054860.1:p.Ser382Ile
XM_017011950.2:c.1145G>T	XP_016867439.1:p.Ser382Ile
NM_014141.6:c.1145G>T MANE Select	NP_054860.1:p.Ser382Ile