Canonical Allele Identifier: CA2835130
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5640830A>G
GRCh37 chr4:g.5642557A>G
Revel Score:
ENST00000344938 0.515
ENST00000310917 0.515
ENST00000344408 (MANE Select) 0.515
gnomAD v2:
4:5642557 A / G
gnomAD v3:
4:5640830 A / G
gnomAD v4:
chr4-5640830-A-G
Joint Max Group AF 0.00089306 (SAS)
Genomes Max Group AF 0.00016894 (SAS)
Exomes Max Group AF 0.00091087 (SAS)
ClinVar RCV:
RCV000377763
RCV002523471
ClinVar Variation:
349090
dbSNP:
780517206
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5640830A>G , CM000666.2:g.5640830A>G GRCh38
NC_000004.11:g.5642557A>G , CM000666.1:g.5642557A>G GRCh37
NC_000004.10:g.5693458A>G NCBI36
NG_015821.1:g.73719T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1154T>C MANE Select ENSP00000342144.5:p.Ile385Thr
ENST00000310917.6:c.914T>C ENSP00000311683.2:p.Ile305Thr
ENST00000344408.9:c.1154T>C ENSP00000342144.5:p.Ile385Thr
ENST00000475313.5:c.914T>C ENSP00000431981.1:p.Ile305Thr
ENST00000509670.1:c.914T>C ENSP00000423876.1:p.Ile305Thr
NM_001166136.1:c.914T>C NP_001159608.1:p.Ile305Thr
NM_147127.4:c.1154T>C NP_667338.3:p.Ile385Thr
XM_011513392.1:c.1154T>C XP_011511694.1:p.Ile385Thr
XM_011513393.1:c.1154T>C XP_011511695.1:p.Ile385Thr
XM_011513394.1:c.914T>C XP_011511696.1:p.Ile305Thr
XM_017007736.1:c.914T>C XP_016863225.1:p.Ile305Thr
XM_017007737.1:c.914T>C XP_016863226.1:p.Ile305Thr
XM_017007738.1:c.1154T>C XP_016863227.1:p.Ile385Thr
XM_017007739.1:c.-519T>C XP_016863228.1:n.-519T>C
XM_024453893.1:c.-623T>C XP_024309661.1:n.-623T>C
XR_001741141.1:n.1219T>C
NM_147127.5:c.1154T>C MANE Select NP_667338.3:p.Ile385Thr
NM_001166136.2:c.914T>C NP_001159608.1:p.Ile305Thr
Search 100 bp 5'
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