Canonical Allele Identifier: CA369924930
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1280512473
MyVariant Identifiers: chr7:g.146829562A>G (hg19) chr7:g.147132470A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132470A>G , CM000669.2:g.147132470A>G GRCh38
NC_000007.13:g.146829562A>G , CM000669.1:g.146829562A>G GRCh37
NC_000007.12:g.146460495A>G NCBI36
NG_007092.2:g.1021110A>G
NG_007092.3:g.1021470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1309A>G MANE Select ENSP00000354778.3:p.Ile437Val
ENST00000636561.1:n.1212A>G
ENST00000636870.1:n.1171A>G
ENST00000637150.1:n.1238A>G
ENST00000637694.1:n.1212A>G
ENST00000637825.1:n.792A>G
ENST00000638117.1:n.1212A>G
ENST00000361727.7:c.1309A>G ENSP00000354778.3:p.Ile437Val
NM_014141.5:c.1309A>G NP_054860.1:p.Ile437Val
XM_017011950.2:c.1309A>G XP_016867439.1:p.Ile437Val
NM_014141.6:c.1309A>G MANE Select NP_054860.1:p.Ile437Val
Search 100 bp 5'
Search 100 bp 3'