Canonical Allele Identifier: CA314124
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205245
ClinVar RCV Id: RCV000262722 RCV000300962 RCV000715807
dbSNP Id: rs149032771
ExAC: 7:146997364 G / A
gnomAD v2: 7-146997364-G-A
gnomAD v3: 7-147300272-G-A
gnomAD v4: 7-147300272-G-A
MyVariant Identifiers: chr7:g.146997364G>A (hg19) chr7:g.147300272G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147300272G>A , CM000669.2:g.147300272G>A GRCh38
NC_000007.13:g.146997364G>A , CM000669.1:g.146997364G>A GRCh37
NC_000007.12:g.146628297G>A NCBI36
NG_007092.2:g.1188912G>A
NG_007092.3:g.1189272G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1480G>A MANE Select ENSP00000354778.3:p.Glu494Lys
ENST00000636870.1:n.1342G>A
ENST00000637694.1:n.1383G>A
ENST00000637825.1:n.963G>A
ENST00000638117.1:n.1383G>A
ENST00000361727.7:c.1480G>A ENSP00000354778.3:p.Glu494Lys
NM_014141.5:c.1480G>A NP_054860.1:p.Glu494Lys
XM_006715919.1:c.-33G>A XP_006715982.1:n.-33G>A
XM_017011950.2:c.1480G>A XP_016867439.1:p.Glu494Lys
NM_014141.6:c.1480G>A MANE Select NP_054860.1:p.Glu494Lys
Search 100 bp 5'
Search 100 bp 3'