Canonical Allele Identifier: CA2834641
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5618540T>C
GRCh37 chr4:g.5620267T>C
Revel Score:
ENST00000344938 0.092
ENST00000310917 0.092
ENST00000344408 (MANE Select) 0.092
gnomAD v2:
4:5620267 T / C
gnomAD v3:
4:5618540 T / C
gnomAD v4:
chr4-5618540-T-C
Joint Max Group AF 0.00046617 (SAS)
Genomes Max Group AF 0.00007301 (SAS)
Exomes Max Group AF 0.00047179 (SAS)
ClinVar RCV:
RCV000389188
RCV000966668
ClinVar Variation:
349001
dbSNP:
190540235
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618540T>C , CM000666.2:g.5618540T>C GRCh38
NC_000004.11:g.5620267T>C , CM000666.1:g.5620267T>C GRCh37
NC_000004.10:g.5671168T>C NCBI36
NG_015821.1:g.96009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2644A>G MANE Select ENSP00000342144.5:p.Thr882Ala
ENST00000310917.6:c.2404A>G ENSP00000311683.2:p.Thr802Ala
ENST00000344408.9:c.2644A>G ENSP00000342144.5:p.Thr882Ala
ENST00000475313.5:c.2404A>G ENSP00000431981.1:p.Thr802Ala
ENST00000509670.1:c.*1037A>G ENSP00000423876.1:n.*1037A>G
NM_001166136.1:c.2404A>G NP_001159608.1:p.Thr802Ala
NM_147127.4:c.2644A>G NP_667338.3:p.Thr882Ala
XM_011513392.1:c.2653A>G XP_011511694.1:p.Thr885Ala
XM_011513393.1:c.2653A>G XP_011511695.1:p.Thr885Ala
XM_011513394.1:c.2413A>G XP_011511696.1:p.Thr805Ala
XM_017007736.1:c.2404A>G XP_016863225.1:p.Thr802Ala
XM_017007737.1:c.2404A>G XP_016863226.1:p.Thr802Ala
XM_017007738.1:c.2644A>G XP_016863227.1:p.Thr882Ala
XM_017007739.1:c.964A>G XP_016863228.1:p.Thr322Ala
XM_024453893.1:c.964A>G XP_024309661.1:p.Thr322Ala
XR_001741141.1:n.2709A>G
NM_147127.5:c.2644A>G MANE Select NP_667338.3:p.Thr882Ala
NM_001166136.2:c.2404A>G NP_001159608.1:p.Thr802Ala
Search 100 bp 5'
Search 100 bp 3'