Canonical Allele Identifier: CA2579054200
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132183G>A , CM000669.2:g.147132183G>A GRCh38
NC_000007.13:g.146829275G>A , CM000669.1:g.146829275G>A GRCh37
NC_000007.12:g.146460208G>A NCBI36
NG_007092.2:g.1020823G>A
NG_007092.3:g.1021183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1084-62G>A MANE Select ENSP00000354778.3:n.1084-62G>A
ENST00000636561.1:n.987-62G>A
ENST00000636870.1:n.946-62G>A
ENST00000637150.1:n.1013-62G>A
ENST00000637694.1:n.987-62G>A
ENST00000637825.1:n.567-62G>A
ENST00000638117.1:n.987-62G>A
ENST00000361727.7:c.1084-62G>A ENSP00000354778.3:n.1084-62G>A
NM_014141.5:c.1084-62G>A NP_054860.1:n.1084-62G>A
XM_017011950.2:c.1084-62G>A XP_016867439.1:n.1084-62G>A
NM_014141.6:c.1084-62G>A MANE Select NP_054860.1:n.1084-62G>A
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