Canonical Allele Identifier: CA16618377

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 420402
• ClinVar RCV Id: RCV000481495 ; RCV001370377
• dbSNP Id: rs1064794457
• gnomAD v2: 7-146829581-G-A
• gnomAD v4: 7-147132489-G-A
• MyVariant Identifiers: chr7:g.146829581G>A (hg19) ; chr7:g.147132489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132489G>A , CM000669.2:g.147132489G>A	GRCh38
NC_000007.13:g.146829581G>A , CM000669.1:g.146829581G>A	GRCh37
NC_000007.12:g.146460514G>A	NCBI36
NG_007092.2:g.1021129G>A
NG_007092.3:g.1021489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1328G>A MANE Select	ENSP00000354778.3:p.Ser443Asn
ENST00000636561.1:n.1231G>A
ENST00000636870.1:n.1190G>A
ENST00000637150.1:n.1257G>A
ENST00000637694.1:n.1231G>A
ENST00000637825.1:n.811G>A
ENST00000638117.1:n.1231G>A
ENST00000361727.7:c.1328G>A	ENSP00000354778.3:p.Ser443Asn
NM_014141.5:c.1328G>A	NP_054860.1:p.Ser443Asn
XM_017011950.2:c.1328G>A	XP_016867439.1:p.Ser443Asn
NM_014141.6:c.1328G>A MANE Select	NP_054860.1:p.Ser443Asn