Canonical Allele Identifier: CA314100

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 205233
• ClinVar RCV Id: RCV000187174 ; RCV000227817 ; RCV000515191 ; RCV002314708
• dbSNP Id: rs371839994
• ExAC: 7:146829398 G / A
• gnomAD v2: 7-146829398-G-A
• gnomAD v3: 7-147132306-G-A
• gnomAD v4: 7-147132306-G-A
• MyVariant Identifiers: chr7:g.146829398G>A (hg19) ; chr7:g.147132306G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1145G>A MANE Select	ENSP00000354778.3:p.Ser382Asn
ENST00000636561.1:n.1048G>A
ENST00000636870.1:n.1007G>A
ENST00000637150.1:n.1074G>A
ENST00000637694.1:n.1048G>A
ENST00000637825.1:n.628G>A
ENST00000638117.1:n.1048G>A
ENST00000361727.7:c.1145G>A	ENSP00000354778.3:p.Ser382Asn
NM_014141.5:c.1145G>A	NP_054860.1:p.Ser382Asn
XM_017011950.2:c.1145G>A	XP_016867439.1:p.Ser382Asn
NM_014141.6:c.1145G>A MANE Select	NP_054860.1:p.Ser382Asn