Canonical Allele Identifier: CA4546068
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438340
ClinVar RCV Id: RCV000505263
dbSNP Id: rs149032771
ExAC: 7:146997364 G / T
gnomAD v2: 7-146997364-G-T
MyVariant Identifiers: chr7:g.146997364G>T (hg19) chr7:g.147300272G>T (hg38)
PubMed: PMID:27439707
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1480G>T MANE Select ENSP00000354778.3:p.Glu494Ter
ENST00000636870.1:n.1342G>T
ENST00000637694.1:n.1383G>T
ENST00000637825.1:n.963G>T
ENST00000638117.1:n.1383G>T
ENST00000361727.7:c.1480G>T ENSP00000354778.3:p.Glu494Ter
NM_014141.5:c.1480G>T NP_054860.1:p.Glu494Ter
XM_006715919.1:c.-33G>T XP_006715982.1:n.-33G>T
XM_017011950.2:c.1480G>T XP_016867439.1:p.Glu494Ter
NM_014141.6:c.1480G>T MANE Select NP_054860.1:p.Glu494Ter
Search 100 bp 5'
Search 100 bp 3'