Canonical Allele Identifier: CA1750841592
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800280269
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571118C>A , CM000669.2:g.147571118C>A GRCh38
NC_000007.13:g.147268210C>A , CM000669.1:g.147268210C>A GRCh37
NC_000007.12:g.146899143C>A NCBI36
NG_007092.2:g.1459758C>A
NG_007092.3:g.1460118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8861C>A MANE Select ENSP00000354778.3:n.1897+8861C>A
ENST00000636870.1:n.1759+8861C>A
ENST00000637825.1:n.1380+8861C>A
ENST00000638117.1:n.1800+8861C>A
ENST00000361727.7:c.1897+8861C>A ENSP00000354778.3:n.1897+8861C>A
NM_014141.5:c.1897+8861C>A NP_054860.1:n.1897+8861C>A
XM_006715919.1:c.385+8861C>A XP_006715982.1:n.385+8861C>A
XM_017011950.2:c.1897+8861C>A XP_016867439.1:n.1897+8861C>A
NM_014141.6:c.1897+8861C>A MANE Select NP_054860.1:n.1897+8861C>A
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