Canonical Allele Identifier: CA1082611
Gene: CERS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.150968149T>G
GRCh37 chr1:g.150940625T>G
Revel Score:
ENST00000368954 (MANE Select) 0.776
ENST00000271688 0.776
ENST00000368949 0.776
ENST00000361419 0.776
ENST00000421609 0.776
ENST00000457392 0.776
gnomAD v2:
1:150940625 T / G
gnomAD v3:
1:150968149 T / G
gnomAD v4:
chr1-150968149-T-G
Joint Max Group AF 0.2146146 (NFE)
Genomes Max Group AF 0.20527173 (NFE)
Exomes Max Group AF 0.21503146 (NFE)
dbSNP:
267738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150968149T>G , CM000663.2:g.150968149T>G GRCh38
NC_000001.10:g.150940625T>G , CM000663.1:g.150940625T>G GRCh37
NC_000001.9:g.149207249T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368954.10:c.344A>C MANE Select ENSP00000357950.5:p.Glu115Ala
ENST00000271688.10:c.344A>C ENSP00000271688.6:p.Glu115Ala
ENST00000345896.8:n.396A>C
ENST00000361419.9:c.344A>C ENSP00000355020.5:p.Glu115Ala
ENST00000368949.8:c.344A>C ENSP00000357945.5:p.Glu115Ala
ENST00000368954.9:c.344A>C ENSP00000357950.5:p.Glu115Ala
ENST00000421609.5:c.344A>C ENSP00000393239.1:p.Glu115Ala
ENST00000457392.1:c.344A>C ENSP00000394012.1:p.Glu115Ala
ENST00000460664.5:n.24A>C
ENST00000558062.5:c.344A>C ENSP00000452810.1:p.Glu115Ala
ENST00000559020.1:n.137A>C
ENST00000561294.5:c.317A>C ENSP00000454160.2:p.Glu106Ala
NM_022075.4:c.344A>C NP_071358.1:p.Glu115Ala
NM_181746.3:c.344A>C NP_859530.1:p.Glu115Ala
XM_005245107.3:c.344A>C XP_005245164.1:p.Glu115Ala
XM_011509451.1:c.404A>C XP_011507753.1:p.Glu135Ala
XM_011509452.1:c.344A>C XP_011507754.1:p.Glu115Ala
XM_011509451.2:c.404A>C XP_011507753.1:p.Glu135Ala
XM_011509452.3:c.344A>C XP_011507754.1:p.Glu115Ala
NM_022075.5:c.344A>C MANE Select NP_071358.1:p.Glu115Ala
NM_181746.4:c.344A>C NP_859530.1:p.Glu115Ala
Search 100 bp 5'
Search 100 bp 3'