Canonical Allele Identifier: CA1108463320
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147882772-C-T
gnomAD v4: 7-147882772-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882772C>T , CM000669.2:g.147882772C>T GRCh38
NC_000007.13:g.147579864C>T , CM000669.1:g.147579864C>T GRCh37
NC_000007.12:g.147210797C>T NCBI36
NG_007092.2:g.1771412C>T
NG_007092.3:g.1771772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20793C>T MANE Select ENSP00000354778.3:n.2099-20793C>T
ENST00000636870.1:n.1961-20793C>T
ENST00000637825.1:n.1582-20793C>T
ENST00000361727.7:c.2099-20793C>T ENSP00000354778.3:n.2099-20793C>T
ENST00000455301.2:n.34-20793C>T
ENST00000627772.2:n.272-20793C>T
NM_014141.5:c.2099-20793C>T NP_054860.1:n.2099-20793C>T
XM_006715919.1:c.587-20793C>T XP_006715982.1:n.587-20793C>T
NM_014141.6:c.2099-20793C>T MANE Select NP_054860.1:n.2099-20793C>T
Search 100 bp 5'
Search 100 bp 3'