Canonical Allele Identifier: CA1108410376
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800288641
gnomAD v3: 7-147571381-C-G
gnomAD v4: 7-147571381-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571381C>G , CM000669.2:g.147571381C>G GRCh38
NC_000007.13:g.147268473C>G , CM000669.1:g.147268473C>G GRCh37
NC_000007.12:g.146899406C>G NCBI36
NG_007092.2:g.1460021C>G
NG_007092.3:g.1460381C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9124C>G MANE Select ENSP00000354778.3:n.1897+9124C>G
ENST00000636870.1:n.1759+9124C>G
ENST00000637825.1:n.1380+9124C>G
ENST00000638117.1:n.1800+9124C>G
ENST00000361727.7:c.1897+9124C>G ENSP00000354778.3:n.1897+9124C>G
NM_014141.5:c.1897+9124C>G NP_054860.1:n.1897+9124C>G
XM_006715919.1:c.385+9124C>G XP_006715982.1:n.385+9124C>G
XM_017011950.2:c.1897+9124C>G XP_016867439.1:n.1897+9124C>G
NM_014141.6:c.1897+9124C>G MANE Select NP_054860.1:n.1897+9124C>G
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