Canonical Allele Identifier: CA369924597
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146829407A>C (hg19) chr7:g.147132315A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132315A>C , CM000669.2:g.147132315A>C GRCh38
NC_000007.13:g.146829407A>C , CM000669.1:g.146829407A>C GRCh37
NC_000007.12:g.146460340A>C NCBI36
NG_007092.2:g.1020955A>C
NG_007092.3:g.1021315A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1154A>C MANE Select ENSP00000354778.3:p.Glu385Ala
ENST00000636561.1:n.1057A>C
ENST00000636870.1:n.1016A>C
ENST00000637150.1:n.1083A>C
ENST00000637694.1:n.1057A>C
ENST00000637825.1:n.637A>C
ENST00000638117.1:n.1057A>C
ENST00000361727.7:c.1154A>C ENSP00000354778.3:p.Glu385Ala
NM_014141.5:c.1154A>C NP_054860.1:p.Glu385Ala
XM_017011950.2:c.1154A>C XP_016867439.1:p.Glu385Ala
NM_014141.6:c.1154A>C MANE Select NP_054860.1:p.Glu385Ala
Search 100 bp 5'
Search 100 bp 3'