Canonical Allele Identifier: CA369924329
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488650
ClinVar RCV Id: RCV001977057
dbSNP Id: rs1277235702
gnomAD v2: 7-146825876-G-T
gnomAD v4: 7-147128784-G-T
MyVariant Identifiers: chr7:g.146825876G>T (hg19) chr7:g.147128784G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128784G>T , CM000669.2:g.147128784G>T GRCh38
NC_000007.13:g.146825876G>T , CM000669.1:g.146825876G>T GRCh37
NC_000007.12:g.146456809G>T NCBI36
NG_007092.2:g.1017424G>T
NG_007092.3:g.1017784G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1031G>T MANE Select ENSP00000354778.3:p.Gly344Val
ENST00000636561.1:n.934G>T
ENST00000636870.1:n.893G>T
ENST00000637150.1:n.960G>T
ENST00000637694.1:n.934G>T
ENST00000637825.1:n.514G>T
ENST00000638117.1:n.934G>T
ENST00000361727.7:c.1031G>T ENSP00000354778.3:p.Gly344Val
NM_014141.5:c.1031G>T NP_054860.1:p.Gly344Val
XM_017011950.2:c.1031G>T XP_016867439.1:p.Gly344Val
NM_014141.6:c.1031G>T MANE Select NP_054860.1:p.Gly344Val
Search 100 bp 5'
Search 100 bp 3'