Canonical Allele Identifier: CA2834927
Gene: EVC2 HGNC NCBI
COSMIC:
COSM328137
COSM4860460 (not active)
MyVariant.info:
GRCh38 chr4:g.5628622C>T
GRCh37 chr4:g.5630349C>T
Revel Score:
ENST00000344938 0.182
ENST00000310917 0.182
ENST00000344408 (MANE Select) 0.182
gnomAD v2:
4:5630349 C / T
gnomAD v3:
4:5628622 C / T
gnomAD v4:
chr4-5628622-C-T
Joint Max Group AF 0.00182987 (NFE)
Genomes Max Group AF 0.00145368 (NFE)
Exomes Max Group AF 0.00183927 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628622C>T , CM000666.2:g.5628622C>T GRCh38
NC_000004.11:g.5630349C>T , CM000666.1:g.5630349C>T GRCh37
NC_000004.10:g.5681250C>T NCBI36
NG_015821.1:g.85927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1823G>A MANE Select ENSP00000342144.5:p.Arg608His
ENST00000310917.6:c.1583G>A ENSP00000311683.2:p.Arg528His
ENST00000344408.9:c.1823G>A ENSP00000342144.5:p.Arg608His
ENST00000475313.5:c.1583G>A ENSP00000431981.1:p.Arg528His
ENST00000509670.1:c.*216G>A ENSP00000423876.1:n.*216G>A
NM_001166136.1:c.1583G>A NP_001159608.1:p.Arg528His
NM_147127.4:c.1823G>A NP_667338.3:p.Arg608His
XM_011513392.1:c.1832G>A XP_011511694.1:p.Arg611His
XM_011513393.1:c.1832G>A XP_011511695.1:p.Arg611His
XM_011513394.1:c.1592G>A XP_011511696.1:p.Arg531His
XM_017007736.1:c.1583G>A XP_016863225.1:p.Arg528His
XM_017007737.1:c.1583G>A XP_016863226.1:p.Arg528His
XM_017007738.1:c.1823G>A XP_016863227.1:p.Arg608His
XM_017007739.1:c.143G>A XP_016863228.1:p.Arg48His
XM_024453893.1:c.143G>A XP_024309661.1:p.Arg48His
XR_001741141.1:n.1888G>A
NM_147127.5:c.1823G>A MANE Select NP_667338.3:p.Arg608His
NM_001166136.2:c.1583G>A NP_001159608.1:p.Arg528His
Search 100 bp 5'
Search 100 bp 3'