Canonical Allele Identifier: CA6118037
Gene: CNIH2 HGNC NCBI
COSMIC:
COSM6350606 (not active)
MyVariant.info:
GRCh38 chr11:g.66283241G>A
GRCh37 chr11:g.66050712G>A
gnomAD v2:
11:66050712 G / A
gnomAD v3:
11:66283241 G / A
gnomAD v4:
chr11-66283241-G-A
Joint Max Group AF 0.35294483 (NFE)
Genomes Max Group AF 0.3486004 (NFE)
Exomes Max Group AF 0.35300975 (NFE)
dbSNP:
4073582
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66283241G>A , CM000673.2:g.66283241G>A GRCh38
NC_000011.9:g.66050712G>A , CM000673.1:g.66050712G>A GRCh37
NC_000011.8:g.65807288G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000311445.7:c.312-7G>A MANE Select ENSP00000310003.6:n.312-7G>A
ENST00000311445.6:c.312-7G>A ENSP00000310003.6:n.312-7G>A
ENST00000528063.5:c.*149-7G>A ENSP00000435537.1:n.*149-7G>A
ENST00000528852.5:c.312-7G>A ENSP00000432177.1:n.312-7G>A
ENST00000530519.5:n.307-7G>A
ENST00000531936.1:n.301-7G>A
NM_182553.2:c.312-7G>A NP_872359.1:n.312-7G>A
NR_073078.1:n.594-7G>A
NR_073079.1:n.564-7G>A
NM_182553.3:c.312-7G>A MANE Select NP_872359.1:n.312-7G>A
NR_073078.2:n.620-7G>A
NR_073079.2:n.590-7G>A
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