Canonical Allele Identifier: CA834786614
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1293349001

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792449C>A , CM000669.2:g.146792449C>A GRCh38
NC_000007.13:g.146489541C>A , CM000669.1:g.146489541C>A GRCh37
NC_000007.12:g.146120474C>A NCBI36
NG_007092.2:g.681089C>A
NG_007092.3:g.681449C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18068C>A MANE Select ENSP00000354778.3:n.208+18068C>A
ENST00000636561.1:n.111+18068C>A
ENST00000637150.1:n.137+18068C>A
ENST00000637694.1:n.111+18068C>A
ENST00000638117.1:n.111+18068C>A
ENST00000361727.7:c.208+18068C>A ENSP00000354778.3:n.208+18068C>A
ENST00000625365.2:c.208+18068C>A ENSP00000485955.1:n.208+18068C>A
NM_014141.5:c.208+18068C>A NP_054860.1:n.208+18068C>A
XM_017011950.2:c.208+18068C>A XP_016867439.1:n.208+18068C>A
NM_014141.6:c.208+18068C>A MANE Select NP_054860.1:n.208+18068C>A