Canonical Allele Identifier: CA15970434
Gene: EDEM2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.35135060A>G
GRCh37 chr20:g.33722863A>G
gnomAD v2:
20:33722863 A / G
gnomAD v3:
20:35135060 A / G
gnomAD v4:
chr20-35135060-A-G
Joint Max Group AF 0.23515732 (AFR)
Genomes Max Group AF 0.23486378 (AFR)
Exomes Max Group AF 0.23216719 (AFR)
dbSNP:
2295888
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35135060A>G , CM000682.2:g.35135060A>G GRCh38
NC_000020.10:g.33722863A>G , CM000682.1:g.33722863A>G GRCh37
NC_000020.9:g.33186524A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374492.8:c.491-111T>C MANE Select ENSP00000363616.3:n.491-111T>C
ENST00000374491.3:c.380-111T>C ENSP00000363615.2:n.380-111T>C
ENST00000374492.7:c.491-111T>C ENSP00000363616.3:n.491-111T>C
NM_001145025.1:c.380-111T>C NP_001138497.1:n.380-111T>C
NM_018217.2:c.491-111T>C NP_060687.2:n.491-111T>C
NR_026728.1:n.807-111T>C
NM_001355008.1:c.368-111T>C NP_001341937.1:n.368-111T>C
NM_018217.3:c.491-111T>C MANE Select NP_060687.2:n.491-111T>C
NM_001145025.2:c.380-111T>C NP_001138497.1:n.380-111T>C
NM_001355008.2:c.368-111T>C NP_001341937.1:n.368-111T>C
NR_026728.2:n.785-111T>C
Search 100 bp 5'
Search 100 bp 3'