Canonical Allele Identifier: CA2685448864
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147132179-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132179A>G , CM000669.2:g.147132179A>G GRCh38
NC_000007.13:g.146829271A>G , CM000669.1:g.146829271A>G GRCh37
NC_000007.12:g.146460204A>G NCBI36
NG_007092.2:g.1020819A>G
NG_007092.3:g.1021179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1084-66A>G MANE Select ENSP00000354778.3:n.1084-66A>G
ENST00000636561.1:n.987-66A>G
ENST00000636870.1:n.946-66A>G
ENST00000637150.1:n.1013-66A>G
ENST00000637694.1:n.987-66A>G
ENST00000637825.1:n.567-66A>G
ENST00000638117.1:n.987-66A>G
ENST00000361727.7:c.1084-66A>G ENSP00000354778.3:n.1084-66A>G
NM_014141.5:c.1084-66A>G NP_054860.1:n.1084-66A>G
XM_017011950.2:c.1084-66A>G XP_016867439.1:n.1084-66A>G
NM_014141.6:c.1084-66A>G MANE Select NP_054860.1:n.1084-66A>G
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