Canonical Allele Identifier: CA834867141
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1441142610
gnomAD v3: 7-147200218-T-C
gnomAD v4: 7-147200218-T-C
MyVariant Identifiers: chr7:g.146897310T>C (hg19) chr7:g.147200218T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200218T>C , CM000669.2:g.147200218T>C GRCh38
NC_000007.13:g.146897310T>C , CM000669.1:g.146897310T>C GRCh37
NC_000007.12:g.146528243T>C NCBI36
NG_007092.2:g.1088858T>C
NG_007092.3:g.1089218T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+67709T>C MANE Select ENSP00000354778.3:n.1348+67709T>C
ENST00000636870.1:n.1210+67709T>C
ENST00000637694.1:n.1251+67709T>C
ENST00000637825.1:n.831+67709T>C
ENST00000638117.1:n.1251+67709T>C
ENST00000361727.7:c.1348+67709T>C ENSP00000354778.3:n.1348+67709T>C
NM_014141.5:c.1348+67709T>C NP_054860.1:n.1348+67709T>C
XM_017011950.2:c.1348+67709T>C XP_016867439.1:n.1348+67709T>C
NM_014141.6:c.1348+67709T>C MANE Select NP_054860.1:n.1348+67709T>C
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