Canonical Allele Identifier: CA2685450028
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147485846-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147485846T>A , CM000669.2:g.147485846T>A GRCh38
NC_000007.13:g.147182938T>A , CM000669.1:g.147182938T>A GRCh37
NC_000007.12:g.146813871T>A NCBI36
NG_007092.2:g.1374486T>A
NG_007092.3:g.1374846T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1671-89T>A MANE Select ENSP00000354778.3:n.1671-89T>A
ENST00000636870.1:n.1533-89T>A
ENST00000637694.1:n.1574-89T>A
ENST00000637825.1:n.1154-89T>A
ENST00000638117.1:n.1574-89T>A
ENST00000361727.7:c.1671-89T>A ENSP00000354778.3:n.1671-89T>A
NM_014141.5:c.1671-89T>A NP_054860.1:n.1671-89T>A
XM_006715919.1:c.159-89T>A XP_006715982.1:n.159-89T>A
XM_017011950.2:c.1671-89T>A XP_016867439.1:n.1671-89T>A
NM_014141.6:c.1671-89T>A MANE Select NP_054860.1:n.1671-89T>A
Search 100 bp 5'
Search 100 bp 3'