Canonical Allele Identifier: CA4545980

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs774451711
• ExAC: 7:146829341 A / G
• MyVariant Identifiers: chr7:g.146829341A>G (hg19) ; chr7:g.147132249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132249A>G , CM000669.2:g.147132249A>G	GRCh38
NC_000007.13:g.146829341A>G , CM000669.1:g.146829341A>G	GRCh37
NC_000007.12:g.146460274A>G	NCBI36
NG_007092.2:g.1020889A>G
NG_007092.3:g.1021249A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1088A>G MANE Select	ENSP00000354778.3:p.Asn363Ser
ENST00000636561.1:n.991A>G
ENST00000636870.1:n.950A>G
ENST00000637150.1:n.1017A>G
ENST00000637694.1:n.991A>G
ENST00000637825.1:n.571A>G
ENST00000638117.1:n.991A>G
ENST00000361727.7:c.1088A>G	ENSP00000354778.3:p.Asn363Ser
NM_014141.5:c.1088A>G	NP_054860.1:p.Asn363Ser
XM_017011950.2:c.1088A>G	XP_016867439.1:p.Asn363Ser
NM_014141.6:c.1088A>G MANE Select	NP_054860.1:p.Asn363Ser