Canonical Allele Identifier: CA2834625
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5618479T>C
GRCh37 chr4:g.5620206T>C
Revel Score:
ENST00000344938 0.256
ENST00000310917 0.256
ENST00000344408 (MANE Select) 0.256
gnomAD v2:
4:5620206 T / C
gnomAD v3:
4:5618479 T / C
gnomAD v4:
chr4-5618479-T-C
Joint Max Group AF 0.00040511 (EAS)
Exomes Max Group AF 0.00043716 (EAS)
ClinVar Allele:
2276217
ClinVar RCV:
RCV002837393
ClinVar Variation:
2291167
dbSNP:
746349084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618479T>C , CM000666.2:g.5618479T>C GRCh38
NC_000004.11:g.5620206T>C , CM000666.1:g.5620206T>C GRCh37
NC_000004.10:g.5671107T>C NCBI36
NG_015821.1:g.96070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2705A>G MANE Select ENSP00000342144.5:p.Gln902Arg
ENST00000310917.6:c.2465A>G ENSP00000311683.2:p.Gln822Arg
ENST00000344408.9:c.2705A>G ENSP00000342144.5:p.Gln902Arg
ENST00000475313.5:c.2465A>G ENSP00000431981.1:p.Gln822Arg
ENST00000509670.1:c.*1098A>G ENSP00000423876.1:n.*1098A>G
NM_001166136.1:c.2465A>G NP_001159608.1:p.Gln822Arg
NM_147127.4:c.2705A>G NP_667338.3:p.Gln902Arg
XM_011513392.1:c.2714A>G XP_011511694.1:p.Gln905Arg
XM_011513393.1:c.2714A>G XP_011511695.1:p.Gln905Arg
XM_011513394.1:c.2474A>G XP_011511696.1:p.Gln825Arg
XM_017007736.1:c.2465A>G XP_016863225.1:p.Gln822Arg
XM_017007737.1:c.2465A>G XP_016863226.1:p.Gln822Arg
XM_017007738.1:c.2705A>G XP_016863227.1:p.Gln902Arg
XM_017007739.1:c.1025A>G XP_016863228.1:p.Gln342Arg
XM_024453893.1:c.1025A>G XP_024309661.1:p.Gln342Arg
XR_001741141.1:n.2770A>G
NM_147127.5:c.2705A>G MANE Select NP_667338.3:p.Gln902Arg
NM_001166136.2:c.2465A>G NP_001159608.1:p.Gln822Arg
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