Canonical Allele Identifier: CA16618375
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418866
ClinVar RCV Id: RCV000485815 RCV001320461
dbSNP Id: rs1064793484
gnomAD v3: 7-147128746-G-T
gnomAD v4: 7-147128746-G-T
COSMIC: COSM1201694
MyVariant Identifiers: chr7:g.146825838G>T (hg19) chr7:g.147128746G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128746G>T , CM000669.2:g.147128746G>T GRCh38
NC_000007.13:g.146825838G>T , CM000669.1:g.146825838G>T GRCh37
NC_000007.12:g.146456771G>T NCBI36
NG_007092.2:g.1017386G>T
NG_007092.3:g.1017746G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.993G>T MANE Select ENSP00000354778.3:p.Lys331Asn
ENST00000636561.1:n.896G>T
ENST00000636870.1:n.855G>T
ENST00000637150.1:n.922G>T
ENST00000637694.1:n.896G>T
ENST00000637825.1:n.476G>T
ENST00000638117.1:n.896G>T
ENST00000361727.7:c.993G>T ENSP00000354778.3:p.Lys331Asn
NM_014141.5:c.993G>T NP_054860.1:p.Lys331Asn
XM_017011950.2:c.993G>T XP_016867439.1:p.Lys331Asn
NM_014141.6:c.993G>T MANE Select NP_054860.1:p.Lys331Asn
Search 100 bp 5'
Search 100 bp 3'