Canonical Allele Identifier: CA1750805185
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1798609300
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147491531A>G , CM000669.2:g.147491531A>G GRCh38
NC_000007.13:g.147188623A>G , CM000669.1:g.147188623A>G GRCh37
NC_000007.12:g.146819556A>G NCBI36
NG_007092.2:g.1380171A>G
NG_007092.3:g.1380531A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1777+5490A>G MANE Select ENSP00000354778.3:n.1777+5490A>G
ENST00000636870.1:n.1639+5490A>G
ENST00000637694.1:n.1681-5090A>G
ENST00000637825.1:n.1260+5490A>G
ENST00000638117.1:n.1680+5490A>G
ENST00000361727.7:c.1777+5490A>G ENSP00000354778.3:n.1777+5490A>G
NM_014141.5:c.1777+5490A>G NP_054860.1:n.1777+5490A>G
XM_006715919.1:c.265+5490A>G XP_006715982.1:n.265+5490A>G
XM_017011950.2:c.1777+5490A>G XP_016867439.1:n.1777+5490A>G
NM_014141.6:c.1777+5490A>G MANE Select NP_054860.1:n.1777+5490A>G
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