Canonical Allele Identifier: CA7343812
Gene: DEGS2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.100149495C>T
GRCh37 chr14:g.100615832C>T
Revel Score:
ENST00000305631 (MANE Select) 0.031
gnomAD v2:
14:100615832 C / T
gnomAD v3:
14:100149495 C / T
gnomAD v4:
chr14-100149495-C-T
Joint Max Group AF 0.00054428 (AFR)
Genomes Max Group AF 0.00056184 (AFR)
Exomes Max Group AF 0.00039707 (AFR)
ClinVar Allele:
2364523
ClinVar RCV:
RCV004217385
ClinVar Variation:
2383642
dbSNP:
376613523
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100149495C>T , CM000676.2:g.100149495C>T GRCh38
NC_000014.8:g.100615832C>T , CM000676.1:g.100615832C>T GRCh37
NC_000014.7:g.99685585C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305631.7:c.298G>A MANE Select ENSP00000307126.5:p.Gly100Ser
ENST00000305631.6:c.298G>A ENSP00000307126.5:p.Gly100Ser
ENST00000553834.1:c.83-2588G>A ENSP00000450637.1:n.83-2588G>A
ENST00000557117.1:n.330G>A
NM_206918.2:c.298G>A NP_996801.2:p.Gly100Ser
XM_006720043.2:c.190G>A XP_006720106.1:p.Gly64Ser
XM_006720043.3:c.190G>A XP_006720106.1:p.Gly64Ser
NM_206918.3:c.298G>A MANE Select NP_996801.2:p.Gly100Ser
Search 100 bp 5'
Search 100 bp 3'