Canonical Allele Identifier: CA2605432015
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147882457-G-T
gnomAD v4: 7-147882457-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882457G>T , CM000669.2:g.147882457G>T GRCh38
NC_000007.13:g.147579549G>T , CM000669.1:g.147579549G>T GRCh37
NC_000007.12:g.147210482G>T NCBI36
NG_007092.2:g.1771097G>T
NG_007092.3:g.1771457G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2099-21108G>T MANE Select ENSP00000354778.3:n.2099-21108G>T
ENST00000636870.1:n.1961-21108G>T
ENST00000637825.1:n.1582-21108G>T
ENST00000361727.7:c.2099-21108G>T ENSP00000354778.3:n.2099-21108G>T
ENST00000455301.2:n.34-21108G>T
ENST00000627772.2:n.272-21108G>T
NM_014141.5:c.2099-21108G>T NP_054860.1:n.2099-21108G>T
XM_006715919.1:c.587-21108G>T XP_006715982.1:n.587-21108G>T
NM_014141.6:c.2099-21108G>T MANE Select NP_054860.1:n.2099-21108G>T
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