Canonical Allele Identifier: CA2834824
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5622985C>T
GRCh37 chr4:g.5624712C>T
Revel Score:
ENST00000344938 0.463
ENST00000310917 0.463
ENST00000344408 (MANE Select) 0.463
gnomAD v2:
4:5624712 C / T
gnomAD v3:
4:5622985 C / T
gnomAD v4:
chr4-5622985-C-T
Joint Max Group AF 0.00004863 (NFE)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.00004525 (NFE)
ClinVar Allele:
2105083
ClinVar RCV:
RCV002922686
ClinVar Variation:
2053668
dbSNP:
757608690
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5622985C>T , CM000666.2:g.5622985C>T GRCh38
NC_000004.11:g.5624712C>T , CM000666.1:g.5624712C>T GRCh37
NC_000004.10:g.5675613C>T NCBI36
NG_015821.1:g.91564G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2053G>A MANE Select ENSP00000342144.5:p.Glu685Lys
ENST00000310917.6:c.1813G>A ENSP00000311683.2:p.Glu605Lys
ENST00000344408.9:c.2053G>A ENSP00000342144.5:p.Glu685Lys
ENST00000475313.5:c.1813G>A ENSP00000431981.1:p.Glu605Lys
ENST00000509670.1:c.*446G>A ENSP00000423876.1:n.*446G>A
NM_001166136.1:c.1813G>A NP_001159608.1:p.Glu605Lys
NM_147127.4:c.2053G>A NP_667338.3:p.Glu685Lys
XM_011513392.1:c.2062G>A XP_011511694.1:p.Glu688Lys
XM_011513393.1:c.2062G>A XP_011511695.1:p.Glu688Lys
XM_011513394.1:c.1822G>A XP_011511696.1:p.Glu608Lys
XM_017007736.1:c.1813G>A XP_016863225.1:p.Glu605Lys
XM_017007737.1:c.1813G>A XP_016863226.1:p.Glu605Lys
XM_017007738.1:c.2053G>A XP_016863227.1:p.Glu685Lys
XM_017007739.1:c.373G>A XP_016863228.1:p.Glu125Lys
XM_024453893.1:c.373G>A XP_024309661.1:p.Glu125Lys
XR_001741141.1:n.2118G>A
NM_147127.5:c.2053G>A MANE Select NP_667338.3:p.Glu685Lys
NM_001166136.2:c.1813G>A NP_001159608.1:p.Glu605Lys
Search 100 bp 5'
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