Canonical Allele Identifier: CA168786694
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1034650260
MyVariant Identifiers: chr7:g.147601952T>A (hg19) chr7:g.147904860T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904860T>A , CM000669.2:g.147904860T>A GRCh38
NC_000007.13:g.147601952T>A , CM000669.1:g.147601952T>A GRCh37
NC_000007.12:g.147232885T>A NCBI36
NG_007092.2:g.1793500T>A
NG_007092.3:g.1793860T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+1139T>A MANE Select ENSP00000354778.3:n.2255+1139T>A
ENST00000636870.1:n.2117+1139T>A
ENST00000637825.1:n.1738+1139T>A
ENST00000361727.7:c.2255+1139T>A ENSP00000354778.3:n.2255+1139T>A
ENST00000455301.2:n.190+1139T>A
ENST00000627772.2:n.428+1139T>A
NM_014141.5:c.2255+1139T>A NP_054860.1:n.2255+1139T>A
XM_006715919.1:c.743+1139T>A XP_006715982.1:n.743+1139T>A
NM_014141.6:c.2255+1139T>A MANE Select NP_054860.1:n.2255+1139T>A
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