Canonical Allele Identifier: CA2716165916
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2116718101

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882547T>G , CM000669.2:g.147882547T>G GRCh38
NC_000007.13:g.147579639T>G , CM000669.1:g.147579639T>G GRCh37
NC_000007.12:g.147210572T>G NCBI36
NG_007092.2:g.1771187T>G
NG_007092.3:g.1771547T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-21018T>G MANE Select ENSP00000354778.3:n.2099-21018T>G
ENST00000636870.1:n.1961-21018T>G
ENST00000637825.1:n.1582-21018T>G
ENST00000361727.7:c.2099-21018T>G ENSP00000354778.3:n.2099-21018T>G
ENST00000455301.2:n.34-21018T>G
ENST00000627772.2:n.272-21018T>G
NM_014141.5:c.2099-21018T>G NP_054860.1:n.2099-21018T>G
XM_006715919.1:c.587-21018T>G XP_006715982.1:n.587-21018T>G
NM_014141.6:c.2099-21018T>G MANE Select NP_054860.1:n.2099-21018T>G