Canonical Allele Identifier: CA2834170
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5562921A>G
GRCh37 chr4:g.5564648A>G
Revel Score:
ENST00000310917 0.416
ENST00000344408 (MANE Select) 0.416
gnomAD v2:
4:5564648 A / G
gnomAD v3:
4:5562921 A / G
gnomAD v4:
chr4-5562921-A-G
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV001315870
ClinVar Variation:
1016807
dbSNP:
746578489
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5562921A>G , CM000666.2:g.5562921A>G GRCh38
NC_000004.11:g.5564648A>G , CM000666.1:g.5564648A>G GRCh37
NC_000004.10:g.5615549A>G NCBI36
NG_015821.1:g.151628T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.3854T>C MANE Select ENSP00000342144.5:p.Leu1285Pro
ENST00000310917.6:c.3614T>C ENSP00000311683.2:p.Leu1205Pro
ENST00000344408.9:c.3854T>C ENSP00000342144.5:p.Leu1285Pro
ENST00000475313.5:c.3419+2337T>C ENSP00000431981.1:n.3419+2337T>C
ENST00000509670.1:c.*2247T>C ENSP00000423876.1:n.*2247T>C
NM_001166136.1:c.3614T>C NP_001159608.1:p.Leu1205Pro
NM_147127.4:c.3854T>C NP_667338.3:p.Leu1285Pro
XM_011513392.1:c.3863T>C XP_011511694.1:p.Leu1288Pro
XM_011513393.1:c.3668+2337T>C XP_011511695.1:n.3668+2337T>C
XM_011513394.1:c.3623T>C XP_011511696.1:p.Leu1208Pro
XM_017007736.1:c.3614T>C XP_016863225.1:p.Leu1205Pro
XM_017007737.1:c.3614T>C XP_016863226.1:p.Leu1205Pro
XM_017007739.1:c.2174T>C XP_016863228.1:p.Leu725Pro
XM_024453893.1:c.2174T>C XP_024309661.1:p.Leu725Pro
XR_001741141.1:n.3704T>C
NM_147127.5:c.3854T>C MANE Select NP_667338.3:p.Leu1285Pro
NM_001166136.2:c.3614T>C NP_001159608.1:p.Leu1205Pro
Search 100 bp 5'
Search 100 bp 3'