Canonical Allele Identifier: CA578859883
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1319243637
gnomAD v2: 7-147574817-G-GT
gnomAD v3: 7-147877725-G-GT
gnomAD v4: 7-147877725-G-GT
MyVariant Identifiers: chr7:g.147574818_147574819insT (hg19) chr7:g.147574817_147574818insT (hg19) chr7:g.147877726_147877727insT (hg38) chr7:g.147877725_147877726insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877733dup , CM000669.2:g.147877733dup GRCh38
NC_000007.13:g.147574825dup , CM000669.1:g.147574825dup GRCh37
NC_000007.12:g.147205758dup NCBI36
NG_007092.2:g.1766373dup
NG_007092.3:g.1766733dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25832dup MANE Select ENSP00000354778.3:n.2099-25832dup
ENST00000636870.1:n.1961-25832dup
ENST00000637825.1:n.1582-25832dup
ENST00000361727.7:c.2099-25832dup ENSP00000354778.3:n.2099-25832dup
ENST00000455301.2:n.34-25832dup
ENST00000627772.2:n.272-25832dup
NM_014141.5:c.2099-25832dup NP_054860.1:n.2099-25832dup
XM_006715919.1:c.587-25832dup XP_006715982.1:n.587-25832dup
NM_014141.6:c.2099-25832dup MANE Select NP_054860.1:n.2099-25832dup
Search 100 bp 5'
Search 100 bp 3'