Canonical Allele Identifier: CA578862047
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1209721788
gnomAD v2: 7-147601610-C-A
gnomAD v3: 7-147904518-C-A
gnomAD v4: 7-147904518-C-A
MyVariant Identifiers: chr7:g.147601610C>A (hg19) chr7:g.147904518C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904518C>A , CM000669.2:g.147904518C>A GRCh38
NC_000007.13:g.147601610C>A , CM000669.1:g.147601610C>A GRCh37
NC_000007.12:g.147232543C>A NCBI36
NG_007092.2:g.1793158C>A
NG_007092.3:g.1793518C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+797C>A MANE Select ENSP00000354778.3:n.2255+797C>A
ENST00000636870.1:n.2117+797C>A
ENST00000637825.1:n.1738+797C>A
ENST00000361727.7:c.2255+797C>A ENSP00000354778.3:n.2255+797C>A
ENST00000455301.2:n.190+797C>A
ENST00000627772.2:n.428+797C>A
NM_014141.5:c.2255+797C>A NP_054860.1:n.2255+797C>A
XM_006715919.1:c.743+797C>A XP_006715982.1:n.743+797C>A
NM_014141.6:c.2255+797C>A MANE Select NP_054860.1:n.2255+797C>A
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