Canonical Allele Identifier: CA369924269
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419438
ClinVar RCV Id: RCV001940657
dbSNP Id: rs1229878290
gnomAD v3: 7-147128760-G-T
gnomAD v4: 7-147128760-G-T
MyVariant Identifiers: chr7:g.146825852G>T (hg19) chr7:g.147128760G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128760G>T , CM000669.2:g.147128760G>T GRCh38
NC_000007.13:g.146825852G>T , CM000669.1:g.146825852G>T GRCh37
NC_000007.12:g.146456785G>T NCBI36
NG_007092.2:g.1017400G>T
NG_007092.3:g.1017760G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1007G>T MANE Select ENSP00000354778.3:p.Cys336Phe
ENST00000636561.1:n.910G>T
ENST00000636870.1:n.869G>T
ENST00000637150.1:n.936G>T
ENST00000637694.1:n.910G>T
ENST00000637825.1:n.490G>T
ENST00000638117.1:n.910G>T
ENST00000361727.7:c.1007G>T ENSP00000354778.3:p.Cys336Phe
NM_014141.5:c.1007G>T NP_054860.1:p.Cys336Phe
XM_017011950.2:c.1007G>T XP_016867439.1:p.Cys336Phe
NM_014141.6:c.1007G>T MANE Select NP_054860.1:p.Cys336Phe
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