Canonical Allele Identifier: CA1750443726
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802691787

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792464C>T , CM000669.2:g.146792464C>T GRCh38
NC_000007.13:g.146489556C>T , CM000669.1:g.146489556C>T GRCh37
NC_000007.12:g.146120489C>T NCBI36
NG_007092.2:g.681104C>T
NG_007092.3:g.681464C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18083C>T MANE Select ENSP00000354778.3:n.208+18083C>T
ENST00000636561.1:n.111+18083C>T
ENST00000637150.1:n.137+18083C>T
ENST00000637694.1:n.111+18083C>T
ENST00000638117.1:n.111+18083C>T
ENST00000361727.7:c.208+18083C>T ENSP00000354778.3:n.208+18083C>T
ENST00000625365.2:c.208+18083C>T ENSP00000485955.1:n.208+18083C>T
NM_014141.5:c.208+18083C>T NP_054860.1:n.208+18083C>T
XM_017011950.2:c.208+18083C>T XP_016867439.1:n.208+18083C>T
NM_014141.6:c.208+18083C>T MANE Select NP_054860.1:n.208+18083C>T