Canonical Allele Identifier: CA1750654794
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802894375
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200188A>T , CM000669.2:g.147200188A>T GRCh38
NC_000007.13:g.146897280A>T , CM000669.1:g.146897280A>T GRCh37
NC_000007.12:g.146528213A>T NCBI36
NG_007092.2:g.1088828A>T
NG_007092.3:g.1089188A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+67679A>T MANE Select ENSP00000354778.3:n.1348+67679A>T
ENST00000636870.1:n.1210+67679A>T
ENST00000637694.1:n.1251+67679A>T
ENST00000637825.1:n.831+67679A>T
ENST00000638117.1:n.1251+67679A>T
ENST00000361727.7:c.1348+67679A>T ENSP00000354778.3:n.1348+67679A>T
NM_014141.5:c.1348+67679A>T NP_054860.1:n.1348+67679A>T
XM_017011950.2:c.1348+67679A>T XP_016867439.1:n.1348+67679A>T
NM_014141.6:c.1348+67679A>T MANE Select NP_054860.1:n.1348+67679A>T
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