Canonical Allele Identifier: CA1750992677
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799538213
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882529C>T , CM000669.2:g.147882529C>T GRCh38
NC_000007.13:g.147579621C>T , CM000669.1:g.147579621C>T GRCh37
NC_000007.12:g.147210554C>T NCBI36
NG_007092.2:g.1771169C>T
NG_007092.3:g.1771529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-21036C>T MANE Select ENSP00000354778.3:n.2099-21036C>T
ENST00000636870.1:n.1961-21036C>T
ENST00000637825.1:n.1582-21036C>T
ENST00000361727.7:c.2099-21036C>T ENSP00000354778.3:n.2099-21036C>T
ENST00000455301.2:n.34-21036C>T
ENST00000627772.2:n.272-21036C>T
NM_014141.5:c.2099-21036C>T NP_054860.1:n.2099-21036C>T
XM_006715919.1:c.587-21036C>T XP_006715982.1:n.587-21036C>T
NM_014141.6:c.2099-21036C>T MANE Select NP_054860.1:n.2099-21036C>T
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