Canonical Allele Identifier: CA4546008

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 658643
• ClinVar RCV Id: RCV000815499
• dbSNP Id: rs772179690
• ExAC: 7:146829505 A / G
• gnomAD v2: 7-146829505-A-G
• gnomAD v3: 7-147132413-A-G
• gnomAD v4: 7-147132413-A-G
• MyVariant Identifiers: chr7:g.146829505A>G (hg19) ; chr7:g.147132413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132413A>G , CM000669.2:g.147132413A>G	GRCh38
NC_000007.13:g.146829505A>G , CM000669.1:g.146829505A>G	GRCh37
NC_000007.12:g.146460438A>G	NCBI36
NG_007092.2:g.1021053A>G
NG_007092.3:g.1021413A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1252A>G MANE Select	ENSP00000354778.3:p.Asn418Asp
ENST00000636561.1:n.1155A>G
ENST00000636870.1:n.1114A>G
ENST00000637150.1:n.1181A>G
ENST00000637694.1:n.1155A>G
ENST00000637825.1:n.735A>G
ENST00000638117.1:n.1155A>G
ENST00000361727.7:c.1252A>G	ENSP00000354778.3:p.Asn418Asp
NM_014141.5:c.1252A>G	NP_054860.1:p.Asn418Asp
XM_017011950.2:c.1252A>G	XP_016867439.1:p.Asn418Asp
NM_014141.6:c.1252A>G MANE Select	NP_054860.1:p.Asn418Asp