Canonical Allele Identifier: CA4266513
Gene: LANCL2 HGNC NCBI
COSMIC:
COSM3750036 (not active)
MyVariant.info:
GRCh38 chr7:g.55366191A>C
GRCh37 chr7:g.55433884A>C
Revel Score:
ENST00000254770 (MANE Select) 0.079
gnomAD v2:
7:55433884 A / C
gnomAD v3:
7:55366191 A / C
gnomAD v4:
chr7-55366191-A-C
Joint Max Group AF 0.34151581 (NFE)
Genomes Max Group AF 0.34497436 (NFE)
Exomes Max Group AF 0.34109026 (NFE)
dbSNP:
2272263
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55366191A>C , CM000669.2:g.55366191A>C GRCh38
NC_000007.13:g.55433884A>C , CM000669.1:g.55433884A>C GRCh37
NC_000007.12:g.55401378A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254770.3:c.166A>C MANE Select ENSP00000254770.2:p.Thr56Pro
ENST00000254770.2:c.166A>C ENSP00000254770.2:p.Thr56Pro
ENST00000452107.6:c.81A>C
NM_018697.3:c.166A>C NP_061167.1:p.Thr56Pro
NM_018697.4:c.166A>C MANE Select NP_061167.1:p.Thr56Pro
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