Canonical Allele Identifier: CA834924195
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1240368836
gnomAD v3: 7-147904580-G-C
gnomAD v4: 7-147904580-G-C
MyVariant Identifiers: chr7:g.147601672G>C (hg19) chr7:g.147904580G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147904580G>C , CM000669.2:g.147904580G>C GRCh38
NC_000007.13:g.147601672G>C , CM000669.1:g.147601672G>C GRCh37
NC_000007.12:g.147232605G>C NCBI36
NG_007092.2:g.1793220G>C
NG_007092.3:g.1793580G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+859G>C MANE Select ENSP00000354778.3:n.2255+859G>C
ENST00000636870.1:n.2117+859G>C
ENST00000637825.1:n.1738+859G>C
ENST00000361727.7:c.2255+859G>C ENSP00000354778.3:n.2255+859G>C
ENST00000455301.2:n.190+859G>C
ENST00000627772.2:n.428+859G>C
NM_014141.5:c.2255+859G>C NP_054860.1:n.2255+859G>C
XM_006715919.1:c.743+859G>C XP_006715982.1:n.743+859G>C
NM_014141.6:c.2255+859G>C MANE Select NP_054860.1:n.2255+859G>C
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