Canonical Allele Identifier: CA458496765
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.146825922A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128830A>T , CM000669.2:g.147128830A>T GRCh38
NC_000007.13:g.146825922A>T , CM000669.1:g.146825922A>T GRCh37
NC_000007.12:g.146456855A>T NCBI36
NG_007092.2:g.1017470A>T
NG_007092.3:g.1017830A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1077A>T MANE Select ENSP00000354778.3:p.Ser359=
ENST00000636561.1:n.980A>T
ENST00000636870.1:n.939A>T
ENST00000637150.1:n.1006A>T
ENST00000637694.1:n.980A>T
ENST00000637825.1:n.560A>T
ENST00000638117.1:n.980A>T
ENST00000361727.7:c.1077A>T ENSP00000354778.3:p.Ser359=
NM_014141.5:c.1077A>T NP_054860.1:p.Ser359=
XM_017011950.2:c.1077A>T XP_016867439.1:p.Ser359=
NM_014141.6:c.1077A>T MANE Select NP_054860.1:p.Ser359=