Canonical Allele Identifier: CA369924777

Gene: CNTNAP2

Linked Data

• COSMIC: COSM4818746
• MyVariant Identifiers: chr7:g.146829491G>T (hg19) ; chr7:g.147132399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132399G>T , CM000669.2:g.147132399G>T	GRCh38
NC_000007.13:g.146829491G>T , CM000669.1:g.146829491G>T	GRCh37
NC_000007.12:g.146460424G>T	NCBI36
NG_007092.2:g.1021039G>T
NG_007092.3:g.1021399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1238G>T MANE Select	ENSP00000354778.3:p.Ser413Ile
ENST00000636561.1:n.1141G>T
ENST00000636870.1:n.1100G>T
ENST00000637150.1:n.1167G>T
ENST00000637694.1:n.1141G>T
ENST00000637825.1:n.721G>T
ENST00000638117.1:n.1141G>T
ENST00000361727.7:c.1238G>T	ENSP00000354778.3:p.Ser413Ile
NM_014141.5:c.1238G>T	NP_054860.1:p.Ser413Ile
XM_017011950.2:c.1238G>T	XP_016867439.1:p.Ser413Ile
NM_014141.6:c.1238G>T MANE Select	NP_054860.1:p.Ser413Ile