Canonical Allele Identifier: CA458496503
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146825826C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128734C>G , CM000669.2:g.147128734C>G GRCh38
NC_000007.13:g.146825826C>G , CM000669.1:g.146825826C>G GRCh37
NC_000007.12:g.146456759C>G NCBI36
NG_007092.2:g.1017374C>G
NG_007092.3:g.1017734C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.981C>G MANE Select ENSP00000354778.3:p.Ser327=
ENST00000636561.1:n.884C>G
ENST00000636870.1:n.843C>G
ENST00000637150.1:n.910C>G
ENST00000637694.1:n.884C>G
ENST00000637825.1:n.464C>G
ENST00000638117.1:n.884C>G
ENST00000361727.7:c.981C>G ENSP00000354778.3:p.Ser327=
NM_014141.5:c.981C>G NP_054860.1:p.Ser327=
XM_017011950.2:c.981C>G XP_016867439.1:p.Ser327=
NM_014141.6:c.981C>G MANE Select NP_054860.1:p.Ser327=