Canonical Allele Identifier: CA16318773
Gene: CNTNAP2 HGNC NCBI
dbSNP:
10263021
gnomAD v2:
7:147925492 T / C
gnomAD v3:
7:148228400 T / C
gnomAD v4:
chr7-148228400-T-C
Joint Max Group AF 0.69633575 (NFE)
Genomes Max Group AF 0.69633575 (NFE)
MyVariant.info:
GRCh38 chr7:g.148228400T>C
GRCh37 chr7:g.147925492T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148228400T>C , CM000669.2:g.148228400T>C GRCh38
NC_000007.13:g.147925492T>C , CM000669.1:g.147925492T>C GRCh37
NC_000007.12:g.147556425T>C NCBI36
NG_007092.2:g.2117040T>C
NG_007092.3:g.2117400T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.3248-1246T>C MANE Select ENSP00000354778.3:n.3248-1246T>C
ENST00000636870.1:n.3110-1246T>C
ENST00000637020.1:n.1066-1246T>C
ENST00000361727.7:c.3248-1246T>C ENSP00000354778.3:n.3248-1246T>C
ENST00000627772.2:n.1421-1246T>C
ENST00000628930.2:c.425-1246T>C ENSP00000487516.1:n.425-1246T>C
NM_014141.5:c.3248-1246T>C NP_054860.1:n.3248-1246T>C
XM_006715919.1:c.1736-1246T>C XP_006715982.1:n.1736-1246T>C
NM_014141.6:c.3248-1246T>C MANE Select NP_054860.1:n.3248-1246T>C
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