Canonical Allele Identifier: CA4546016
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs763419157
ExAC: 7:146829535 G / A
gnomAD v2: 7-146829535-G-A
gnomAD v4: 7-147132443-G-A
COSMIC: COSM745041
MyVariant Identifiers: chr7:g.146829535G>A (hg19) chr7:g.147132443G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132443G>A , CM000669.2:g.147132443G>A GRCh38
NC_000007.13:g.146829535G>A , CM000669.1:g.146829535G>A GRCh37
NC_000007.12:g.146460468G>A NCBI36
NG_007092.2:g.1021083G>A
NG_007092.3:g.1021443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1282G>A MANE Select ENSP00000354778.3:p.Glu428Lys
ENST00000636561.1:n.1185G>A
ENST00000636870.1:n.1144G>A
ENST00000637150.1:n.1211G>A
ENST00000637694.1:n.1185G>A
ENST00000637825.1:n.765G>A
ENST00000638117.1:n.1185G>A
ENST00000361727.7:c.1282G>A ENSP00000354778.3:p.Glu428Lys
NM_014141.5:c.1282G>A NP_054860.1:p.Glu428Lys
XM_017011950.2:c.1282G>A XP_016867439.1:p.Glu428Lys
NM_014141.6:c.1282G>A MANE Select NP_054860.1:p.Glu428Lys
Search 100 bp 5'
Search 100 bp 3'