Canonical Allele Identifier: CA2560915811
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778197T>C , CM000669.2:g.146778197T>C GRCh38
NC_000007.13:g.146475289T>C , CM000669.1:g.146475289T>C GRCh37
NC_000007.12:g.146106222T>C NCBI36
NG_007092.2:g.666837T>C
NG_007092.3:g.667197T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+3816T>C MANE Select ENSP00000354778.3:n.208+3816T>C
ENST00000636277.1:n.75+3816T>C
ENST00000636561.1:n.111+3816T>C
ENST00000636600.1:n.58+3816T>C
ENST00000637150.1:n.137+3816T>C
ENST00000637694.1:n.111+3816T>C
ENST00000638117.1:n.111+3816T>C
ENST00000361727.7:c.208+3816T>C ENSP00000354778.3:n.208+3816T>C
ENST00000625365.2:c.208+3816T>C ENSP00000485955.1:n.208+3816T>C
NM_014141.5:c.208+3816T>C NP_054860.1:n.208+3816T>C
XM_017011950.2:c.208+3816T>C XP_016867439.1:n.208+3816T>C
NM_014141.6:c.208+3816T>C MANE Select NP_054860.1:n.208+3816T>C
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