Canonical Allele Identifier: CA578594878
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1159231434
gnomAD v2: 7-146489416-G-A
MyVariant Identifiers: chr7:g.146489416G>A (hg19) chr7:g.146792324G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792324G>A , CM000669.2:g.146792324G>A GRCh38
NC_000007.13:g.146489416G>A , CM000669.1:g.146489416G>A GRCh37
NC_000007.12:g.146120349G>A NCBI36
NG_007092.2:g.680964G>A
NG_007092.3:g.681324G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+17943G>A MANE Select ENSP00000354778.3:n.208+17943G>A
ENST00000636561.1:n.111+17943G>A
ENST00000637150.1:n.137+17943G>A
ENST00000637694.1:n.111+17943G>A
ENST00000638117.1:n.111+17943G>A
ENST00000361727.7:c.208+17943G>A ENSP00000354778.3:n.208+17943G>A
ENST00000625365.2:c.208+17943G>A ENSP00000485955.1:n.208+17943G>A
NM_014141.5:c.208+17943G>A NP_054860.1:n.208+17943G>A
XM_017011950.2:c.208+17943G>A XP_016867439.1:n.208+17943G>A
NM_014141.6:c.208+17943G>A MANE Select NP_054860.1:n.208+17943G>A
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