Canonical Allele Identifier: CA369925816
Gene: CNTNAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.147183039T>G (hg19) chr7:g.147485947T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147485947T>G , CM000669.2:g.147485947T>G GRCh38
NC_000007.13:g.147183039T>G , CM000669.1:g.147183039T>G GRCh37
NC_000007.12:g.146813972T>G NCBI36
NG_007092.2:g.1374587T>G
NG_007092.3:g.1374947T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1683T>G MANE Select ENSP00000354778.3:p.Asn561Lys
ENST00000636870.1:n.1545T>G
ENST00000637694.1:n.1586T>G
ENST00000637825.1:n.1166T>G
ENST00000638117.1:n.1586T>G
ENST00000361727.7:c.1683T>G ENSP00000354778.3:p.Asn561Lys
NM_014141.5:c.1683T>G NP_054860.1:p.Asn561Lys
XM_006715919.1:c.171T>G XP_006715982.1:p.Asn57Lys
XM_017011950.2:c.1683T>G XP_016867439.1:p.Asn561Lys
NM_014141.6:c.1683T>G MANE Select NP_054860.1:p.Asn561Lys
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