Canonical Allele Identifier: CA1751005488
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800203235
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147918562C>G , CM000669.2:g.147918562C>G GRCh38
NC_000007.13:g.147615654C>G , CM000669.1:g.147615654C>G GRCh37
NC_000007.12:g.147246587C>G NCBI36
NG_007092.2:g.1807202C>G
NG_007092.3:g.1807562C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+14841C>G MANE Select ENSP00000354778.3:n.2255+14841C>G
ENST00000636870.1:n.2117+14841C>G
ENST00000637825.1:n.1738+14841C>G
ENST00000361727.7:c.2255+14841C>G ENSP00000354778.3:n.2255+14841C>G
ENST00000455301.2:n.190+14841C>G
ENST00000627772.2:n.428+14841C>G
NM_014141.5:c.2255+14841C>G NP_054860.1:n.2255+14841C>G
XM_006715919.1:c.743+14841C>G XP_006715982.1:n.743+14841C>G
NM_014141.6:c.2255+14841C>G MANE Select NP_054860.1:n.2255+14841C>G
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