Canonical Allele Identifier: CA1750443710
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1585092672

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792433C>A , CM000669.2:g.146792433C>A GRCh38
NC_000007.13:g.146489525C>A , CM000669.1:g.146489525C>A GRCh37
NC_000007.12:g.146120458C>A NCBI36
NG_007092.2:g.681073C>A
NG_007092.3:g.681433C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18052C>A MANE Select ENSP00000354778.3:n.208+18052C>A
ENST00000636561.1:n.111+18052C>A
ENST00000637150.1:n.137+18052C>A
ENST00000637694.1:n.111+18052C>A
ENST00000638117.1:n.111+18052C>A
ENST00000361727.7:c.208+18052C>A ENSP00000354778.3:n.208+18052C>A
ENST00000625365.2:c.208+18052C>A ENSP00000485955.1:n.208+18052C>A
NM_014141.5:c.208+18052C>A NP_054860.1:n.208+18052C>A
XM_017011950.2:c.208+18052C>A XP_016867439.1:n.208+18052C>A
NM_014141.6:c.208+18052C>A MANE Select NP_054860.1:n.208+18052C>A