Canonical Allele Identifier: CA1108461221
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799450543
gnomAD v3: 7-147877949-G-A
gnomAD v4: 7-147877949-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877949G>A , CM000669.2:g.147877949G>A GRCh38
NC_000007.13:g.147575041G>A , CM000669.1:g.147575041G>A GRCh37
NC_000007.12:g.147205974G>A NCBI36
NG_007092.2:g.1766589G>A
NG_007092.3:g.1766949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25616G>A MANE Select ENSP00000354778.3:n.2099-25616G>A
ENST00000636870.1:n.1961-25616G>A
ENST00000637825.1:n.1582-25616G>A
ENST00000361727.7:c.2099-25616G>A ENSP00000354778.3:n.2099-25616G>A
ENST00000455301.2:n.34-25616G>A
ENST00000627772.2:n.272-25616G>A
NM_014141.5:c.2099-25616G>A NP_054860.1:n.2099-25616G>A
XM_006715919.1:c.587-25616G>A XP_006715982.1:n.587-25616G>A
NM_014141.6:c.2099-25616G>A MANE Select NP_054860.1:n.2099-25616G>A
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