Canonical Allele Identifier: CA4546444
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718660
ClinVar RCV Id: RCV002299985
dbSNP Id: rs773125933
ExAC: 7:147844639 G / T
gnomAD v2: 7-147844639-G-T
gnomAD v4: 7-148147547-G-T
MyVariant Identifiers: chr7:g.147844639G>T (hg19) chr7:g.148147547G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148147547G>T , CM000669.2:g.148147547G>T GRCh38
NC_000007.13:g.147844639G>T , CM000669.1:g.147844639G>T GRCh37
NC_000007.12:g.147475572G>T NCBI36
NG_007092.2:g.2036187G>T
NG_007092.3:g.2036547G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2611G>T MANE Select ENSP00000354778.3:p.Val871Leu
ENST00000636870.1:n.2473G>T
ENST00000637020.1:n.429G>T
ENST00000361727.7:c.2611G>T ENSP00000354778.3:p.Val871Leu
ENST00000627772.2:n.784G>T
ENST00000628930.2:c.-213G>T ENSP00000487516.1:n.-213G>T
ENST00000631199.2:n.340G>T
NM_014141.5:c.2611G>T NP_054860.1:p.Val871Leu
XM_006715919.1:c.1099G>T XP_006715982.1:p.Val367Leu
XR_928095.1:n.214+7630C>A
NM_014141.6:c.2611G>T MANE Select NP_054860.1:p.Val871Leu
Search 100 bp 5'
Search 100 bp 3'