Canonical Allele Identifier: CA369925012
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146829599C>A (hg19) chr7:g.147132507C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132507C>A , CM000669.2:g.147132507C>A GRCh38
NC_000007.13:g.146829599C>A , CM000669.1:g.146829599C>A GRCh37
NC_000007.12:g.146460532C>A NCBI36
NG_007092.2:g.1021147C>A
NG_007092.3:g.1021507C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1346C>A MANE Select ENSP00000354778.3:p.Ser449Ter
ENST00000636561.1:n.1249C>A
ENST00000636870.1:n.1208C>A
ENST00000637150.1:n.1275C>A
ENST00000637694.1:n.1249C>A
ENST00000637825.1:n.829C>A
ENST00000638117.1:n.1249C>A
ENST00000361727.7:c.1346C>A ENSP00000354778.3:p.Ser449Ter
NM_014141.5:c.1346C>A NP_054860.1:p.Ser449Ter
XM_017011950.2:c.1346C>A XP_016867439.1:p.Ser449Ter
NM_014141.6:c.1346C>A MANE Select NP_054860.1:p.Ser449Ter
Search 100 bp 5'
Search 100 bp 3'