Canonical Allele Identifier: CA369924586
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146829401A>G (hg19) chr7:g.147132309A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132309A>G , CM000669.2:g.147132309A>G GRCh38
NC_000007.13:g.146829401A>G , CM000669.1:g.146829401A>G GRCh37
NC_000007.12:g.146460334A>G NCBI36
NG_007092.2:g.1020949A>G
NG_007092.3:g.1021309A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1148A>G MANE Select ENSP00000354778.3:p.Tyr383Cys
ENST00000636561.1:n.1051A>G
ENST00000636870.1:n.1010A>G
ENST00000637150.1:n.1077A>G
ENST00000637694.1:n.1051A>G
ENST00000637825.1:n.631A>G
ENST00000638117.1:n.1051A>G
ENST00000361727.7:c.1148A>G ENSP00000354778.3:p.Tyr383Cys
NM_014141.5:c.1148A>G NP_054860.1:p.Tyr383Cys
XM_017011950.2:c.1148A>G XP_016867439.1:p.Tyr383Cys
NM_014141.6:c.1148A>G MANE Select NP_054860.1:p.Tyr383Cys
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