Canonical Allele Identifier: CA458577780

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs2129285248
• COSMIC: COSM1329993
• MyVariant Identifiers: chr7:g.146829351T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132259T>C , CM000669.2:g.147132259T>C	GRCh38
NC_000007.13:g.146829351T>C , CM000669.1:g.146829351T>C	GRCh37
NC_000007.12:g.146460284T>C	NCBI36
NG_007092.2:g.1020899T>C
NG_007092.3:g.1021259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1098T>C MANE Select	ENSP00000354778.3:p.Phe366=
ENST00000636561.1:n.1001T>C
ENST00000636870.1:n.960T>C
ENST00000637150.1:n.1027T>C
ENST00000637694.1:n.1001T>C
ENST00000637825.1:n.581T>C
ENST00000638117.1:n.1001T>C
ENST00000361727.7:c.1098T>C	ENSP00000354778.3:p.Phe366=
NM_014141.5:c.1098T>C	NP_054860.1:p.Phe366=
XM_017011950.2:c.1098T>C	XP_016867439.1:p.Phe366=
NM_014141.6:c.1098T>C MANE Select	NP_054860.1:p.Phe366=