Canonical Allele Identifier: CA4546021
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373502
ClinVar RCV Id: RCV000412939
dbSNP Id: rs779881849
ExAC: 7:146829582 C / A
gnomAD v2: 7-146829582-C-A
gnomAD v3: 7-147132490-C-A
gnomAD v4: 7-147132490-C-A
MyVariant Identifiers: chr7:g.146829582C>A (hg19) chr7:g.147132490C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132490C>A , CM000669.2:g.147132490C>A GRCh38
NC_000007.13:g.146829582C>A , CM000669.1:g.146829582C>A GRCh37
NC_000007.12:g.146460515C>A NCBI36
NG_007092.2:g.1021130C>A
NG_007092.3:g.1021490C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1329C>A MANE Select ENSP00000354778.3:p.Ser443Arg
ENST00000636561.1:n.1232C>A
ENST00000636870.1:n.1191C>A
ENST00000637150.1:n.1258C>A
ENST00000637694.1:n.1232C>A
ENST00000637825.1:n.812C>A
ENST00000638117.1:n.1232C>A
ENST00000361727.7:c.1329C>A ENSP00000354778.3:p.Ser443Arg
NM_014141.5:c.1329C>A NP_054860.1:p.Ser443Arg
XM_017011950.2:c.1329C>A XP_016867439.1:p.Ser443Arg
NM_014141.6:c.1329C>A MANE Select NP_054860.1:p.Ser443Arg
Search 100 bp 5'
Search 100 bp 3'