Canonical Allele Identifier: CA1082612
Gene: CERS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.150968149T>A
GRCh37 chr1:g.150940625T>A
Revel Score:
ENST00000368954 (MANE Select) 0.825
ENST00000271688 0.825
ENST00000368949 0.825
ENST00000361419 0.825
ENST00000421609 0.825
ENST00000457392 0.825
gnomAD v2:
1:150940625 T / A
gnomAD v3:
1:150968149 T / A
gnomAD v4:
chr1-150968149-T-A
Joint Max Group AF 0.00000763 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
dbSNP:
267738
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368954.10:c.344A>T MANE Select ENSP00000357950.5:p.Glu115Val
ENST00000271688.10:c.344A>T ENSP00000271688.6:p.Glu115Val
ENST00000345896.8:n.396A>T
ENST00000361419.9:c.344A>T ENSP00000355020.5:p.Glu115Val
ENST00000368949.8:c.344A>T ENSP00000357945.5:p.Glu115Val
ENST00000368954.9:c.344A>T ENSP00000357950.5:p.Glu115Val
ENST00000421609.5:c.344A>T ENSP00000393239.1:p.Glu115Val
ENST00000457392.1:c.344A>T ENSP00000394012.1:p.Glu115Val
ENST00000460664.5:n.24A>T
ENST00000558062.5:c.344A>T ENSP00000452810.1:p.Glu115Val
ENST00000559020.1:n.137A>T
ENST00000561294.5:c.317A>T ENSP00000454160.2:p.Glu106Val
NM_022075.4:c.344A>T NP_071358.1:p.Glu115Val
NM_181746.3:c.344A>T NP_859530.1:p.Glu115Val
XM_005245107.3:c.344A>T XP_005245164.1:p.Glu115Val
XM_011509451.1:c.404A>T XP_011507753.1:p.Glu135Val
XM_011509452.1:c.344A>T XP_011507754.1:p.Glu115Val
XM_011509451.2:c.404A>T XP_011507753.1:p.Glu135Val
XM_011509452.3:c.344A>T XP_011507754.1:p.Glu115Val
NM_022075.5:c.344A>T MANE Select NP_071358.1:p.Glu115Val
NM_181746.4:c.344A>T NP_859530.1:p.Glu115Val
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