Canonical Allele Identifier: CA116170
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5681282A>C
GRCh37 chr4:g.5683009A>C
Revel Score:
ENST00000344938 0.642
ENST00000310917 0.642
ENST00000344408 (MANE Select) 0.642
gnomAD v2:
4:5683009 A / C
gnomAD v4:
chr4-5681282-A-C
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV000003552
ClinVar Variation:
3385
dbSNP:
137852926
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5681282A>C , CM000666.2:g.5681282A>C GRCh38
NC_000004.11:g.5683009A>C , CM000666.1:g.5683009A>C GRCh37
NC_000004.10:g.5733910A>C NCBI36
NG_015821.1:g.33267T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.848T>G MANE Select ENSP00000342144.5:p.Ile283Arg
ENST00000310917.6:c.608T>G ENSP00000311683.2:p.Ile203Arg
ENST00000344408.9:c.848T>G ENSP00000342144.5:p.Ile283Arg
ENST00000475313.5:c.608T>G ENSP00000431981.1:p.Ile203Arg
ENST00000509670.1:c.608T>G ENSP00000423876.1:p.Ile203Arg
NM_001166136.1:c.608T>G NP_001159608.1:p.Ile203Arg
NM_147127.4:c.848T>G NP_667338.3:p.Ile283Arg
XM_011513392.1:c.848T>G XP_011511694.1:p.Ile283Arg
XM_011513393.1:c.848T>G XP_011511695.1:p.Ile283Arg
XM_011513394.1:c.608T>G XP_011511696.1:p.Ile203Arg
XM_017007736.1:c.608T>G XP_016863225.1:p.Ile203Arg
XM_017007737.1:c.608T>G XP_016863226.1:p.Ile203Arg
XM_017007738.1:c.848T>G XP_016863227.1:p.Ile283Arg
XM_017007739.1:c.-825T>G XP_016863228.1:n.-825T>G
XM_024453893.1:c.-929T>G XP_024309661.1:n.-929T>G
XR_001741141.1:n.913T>G
NM_147127.5:c.848T>G MANE Select NP_667338.3:p.Ile283Arg
NM_001166136.2:c.608T>G NP_001159608.1:p.Ile203Arg
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