Canonical Allele Identifier: CA168786658
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs17237129
gnomAD v2: 7-147601585-G-C
gnomAD v3: 7-147904493-G-C
gnomAD v4: 7-147904493-G-C
MyVariant Identifiers: chr7:g.147601585G>C (hg19) chr7:g.147904493G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904493G>C , CM000669.2:g.147904493G>C GRCh38
NC_000007.13:g.147601585G>C , CM000669.1:g.147601585G>C GRCh37
NC_000007.12:g.147232518G>C NCBI36
NG_007092.2:g.1793133G>C
NG_007092.3:g.1793493G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2255+772G>C MANE Select ENSP00000354778.3:n.2255+772G>C
ENST00000636870.1:n.2117+772G>C
ENST00000637825.1:n.1738+772G>C
ENST00000361727.7:c.2255+772G>C ENSP00000354778.3:n.2255+772G>C
ENST00000455301.2:n.190+772G>C
ENST00000627772.2:n.428+772G>C
NM_014141.5:c.2255+772G>C NP_054860.1:n.2255+772G>C
XM_006715919.1:c.743+772G>C XP_006715982.1:n.743+772G>C
NM_014141.6:c.2255+772G>C MANE Select NP_054860.1:n.2255+772G>C
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