Canonical Allele Identifier: CA1750993403
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799926095
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904519T>A , CM000669.2:g.147904519T>A GRCh38
NC_000007.13:g.147601611T>A , CM000669.1:g.147601611T>A GRCh37
NC_000007.12:g.147232544T>A NCBI36
NG_007092.2:g.1793159T>A
NG_007092.3:g.1793519T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+798T>A MANE Select ENSP00000354778.3:n.2255+798T>A
ENST00000636870.1:n.2117+798T>A
ENST00000637825.1:n.1738+798T>A
ENST00000361727.7:c.2255+798T>A ENSP00000354778.3:n.2255+798T>A
ENST00000455301.2:n.190+798T>A
ENST00000627772.2:n.428+798T>A
NM_014141.5:c.2255+798T>A NP_054860.1:n.2255+798T>A
XM_006715919.1:c.743+798T>A XP_006715982.1:n.743+798T>A
NM_014141.6:c.2255+798T>A MANE Select NP_054860.1:n.2255+798T>A
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