Canonical Allele Identifier: CA14755712
Gene: EDEM2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.35142584C>T
GRCh37 chr20:g.33730387C>T
gnomAD v2:
20:33730387 C / T
gnomAD v3:
20:35142584 C / T
gnomAD v4:
chr20-35142584-C-T
Joint Max Group AF 0.31867386 (MID)
Genomes Max Group AF 0.24100035 (SAS)
Exomes Max Group AF 0.31819336 (MID)
dbSNP:
6120849
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35142584C>T , CM000682.2:g.35142584C>T GRCh38
NC_000020.10:g.33730387C>T , CM000682.1:g.33730387C>T GRCh37
NC_000020.9:g.33194048C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374492.8:c.259-106G>A MANE Select ENSP00000363616.3:n.259-106G>A
ENST00000374491.3:c.148-106G>A ENSP00000363615.2:n.148-106G>A
ENST00000374492.7:c.259-106G>A ENSP00000363616.3:n.259-106G>A
NM_001145025.1:c.148-106G>A NP_001138497.1:n.148-106G>A
NM_018217.2:c.259-106G>A NP_060687.2:n.259-106G>A
NR_026728.1:n.575-106G>A
NM_001355008.1:c.136-106G>A NP_001341937.1:n.136-106G>A
NM_018217.3:c.259-106G>A MANE Select NP_060687.2:n.259-106G>A
NM_001145025.2:c.148-106G>A NP_001138497.1:n.148-106G>A
NM_001355008.2:c.136-106G>A NP_001341937.1:n.136-106G>A
NR_026728.2:n.553-106G>A
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