Canonical Allele Identifier: CA15487380
Gene: CNTNAP2 HGNC NCBI
COSMIC:
COSN20561797 (not active)
MyVariant.info:
GRCh38 chr7:g.147888727T>C
GRCh37 chr7:g.147585819T>C
gnomAD v2:
7:147585819 T / C
gnomAD v3:
7:147888727 T / C
gnomAD v4:
chr7-147888727-T-C
Joint Max Group AF 0.45662425 (AFR)
Genomes Max Group AF 0.45662425 (AFR)
dbSNP:
2538976
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147888727T>C , CM000669.2:g.147888727T>C GRCh38
NC_000007.13:g.147585819T>C , CM000669.1:g.147585819T>C GRCh37
NC_000007.12:g.147216752T>C NCBI36
NG_007092.2:g.1777367T>C
NG_007092.3:g.1777727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-14838T>C MANE Select ENSP00000354778.3:n.2099-14838T>C
ENST00000636870.1:n.1961-14838T>C
ENST00000637825.1:n.1582-14838T>C
ENST00000361727.7:c.2099-14838T>C ENSP00000354778.3:n.2099-14838T>C
ENST00000455301.2:n.34-14838T>C
ENST00000627772.2:n.272-14838T>C
NM_014141.5:c.2099-14838T>C NP_054860.1:n.2099-14838T>C
XM_006715919.1:c.587-14838T>C XP_006715982.1:n.587-14838T>C
NM_014141.6:c.2099-14838T>C MANE Select NP_054860.1:n.2099-14838T>C
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