Canonical Allele Identifier: CA1750841640
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800281748

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571169T>C , CM000669.2:g.147571169T>C GRCh38
NC_000007.13:g.147268261T>C , CM000669.1:g.147268261T>C GRCh37
NC_000007.12:g.146899194T>C NCBI36
NG_007092.2:g.1459809T>C
NG_007092.3:g.1460169T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8912T>C MANE Select ENSP00000354778.3:n.1897+8912T>C
ENST00000636870.1:n.1759+8912T>C
ENST00000637825.1:n.1380+8912T>C
ENST00000638117.1:n.1800+8912T>C
ENST00000361727.7:c.1897+8912T>C ENSP00000354778.3:n.1897+8912T>C
NM_014141.5:c.1897+8912T>C NP_054860.1:n.1897+8912T>C
XM_006715919.1:c.385+8912T>C XP_006715982.1:n.385+8912T>C
XM_017011950.2:c.1897+8912T>C XP_016867439.1:n.1897+8912T>C
NM_014141.6:c.1897+8912T>C MANE Select NP_054860.1:n.1897+8912T>C