Canonical Allele Identifier: CA834896993
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1288759243
MyVariant Identifiers: chr7:g.147268218T>A (hg19) chr7:g.147571126T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571126T>A , CM000669.2:g.147571126T>A GRCh38
NC_000007.13:g.147268218T>A , CM000669.1:g.147268218T>A GRCh37
NC_000007.12:g.146899151T>A NCBI36
NG_007092.2:g.1459766T>A
NG_007092.3:g.1460126T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8869T>A MANE Select ENSP00000354778.3:n.1897+8869T>A
ENST00000636870.1:n.1759+8869T>A
ENST00000637825.1:n.1380+8869T>A
ENST00000638117.1:n.1800+8869T>A
ENST00000361727.7:c.1897+8869T>A ENSP00000354778.3:n.1897+8869T>A
NM_014141.5:c.1897+8869T>A NP_054860.1:n.1897+8869T>A
XM_006715919.1:c.385+8869T>A XP_006715982.1:n.385+8869T>A
XM_017011950.2:c.1897+8869T>A XP_016867439.1:n.1897+8869T>A
NM_014141.6:c.1897+8869T>A MANE Select NP_054860.1:n.1897+8869T>A
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