Canonical Allele Identifier: CA1750993314
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799924428
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904398G>T , CM000669.2:g.147904398G>T GRCh38
NC_000007.13:g.147601490G>T , CM000669.1:g.147601490G>T GRCh37
NC_000007.12:g.147232423G>T NCBI36
NG_007092.2:g.1793038G>T
NG_007092.3:g.1793398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+677G>T MANE Select ENSP00000354778.3:n.2255+677G>T
ENST00000636870.1:n.2117+677G>T
ENST00000637825.1:n.1738+677G>T
ENST00000361727.7:c.2255+677G>T ENSP00000354778.3:n.2255+677G>T
ENST00000455301.2:n.190+677G>T
ENST00000627772.2:n.428+677G>T
NM_014141.5:c.2255+677G>T NP_054860.1:n.2255+677G>T
XM_006715919.1:c.743+677G>T XP_006715982.1:n.743+677G>T
NM_014141.6:c.2255+677G>T MANE Select NP_054860.1:n.2255+677G>T
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