Canonical Allele Identifier: CA168783381

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs201431489
• gnomAD v2: 7-147574816-G-GT
• gnomAD v3: 7-147877724-G-GT
• gnomAD v4: 7-147877724-G-GT
• MyVariant Identifiers: chr7:g.147574816_147574817insT (hg19) ; chr7:g.147877724_147877725insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877724_147877725insT , CM000669.2:g.147877724_147877725insT	GRCh38
NC_000007.13:g.147574816_147574817insT , CM000669.1:g.147574816_147574817insT	GRCh37
NC_000007.12:g.147205749_147205750insT	NCBI36
NG_007092.2:g.1766364_1766365insT
NG_007092.3:g.1766724_1766725insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25841_2099-25840insT MANE Select	ENSP00000354778.3:n.2099-25841_2099-25840insT
ENST00000636870.1:n.1961-25841_1961-25840insT
ENST00000637825.1:n.1582-25841_1582-25840insT
ENST00000361727.7:c.2099-25841_2099-25840insT	ENSP00000354778.3:n.2099-25841_2099-25840insT
ENST00000455301.2:n.34-25841_34-25840insT
ENST00000627772.2:n.272-25841_272-25840insT
NM_014141.5:c.2099-25841_2099-25840insT	NP_054860.1:n.2099-25841_2099-25840insT
XM_006715919.1:c.587-25841_587-25840insT	XP_006715982.1:n.587-25841_587-25840insT
NM_014141.6:c.2099-25841_2099-25840insT MANE Select	NP_054860.1:n.2099-25841_2099-25840insT