Canonical Allele Identifier: CA2834538
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5584816C>T
GRCh37 chr4:g.5586543C>T
Revel Score:
ENST00000344938 0.049
ENST00000310917 0.049
ENST00000344408 (MANE Select) 0.049
gnomAD v2:
4:5586543 C / T
gnomAD v3:
4:5584816 C / T
gnomAD v4:
chr4-5584816-C-T
Joint Max Group AF 0.0003221 (NFE)
Genomes Max Group AF 0.00015828 (EAS)
Exomes Max Group AF 0.0003275 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5584816C>T , CM000666.2:g.5584816C>T GRCh38
NC_000004.11:g.5586543C>T , CM000666.1:g.5586543C>T GRCh37
NC_000004.10:g.5637444C>T NCBI36
NG_015821.1:g.129733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2864G>A MANE Select ENSP00000342144.5:p.Arg955Gln
ENST00000310917.6:c.2624G>A ENSP00000311683.2:p.Arg875Gln
ENST00000344408.9:c.2864G>A ENSP00000342144.5:p.Arg955Gln
ENST00000475313.5:c.2624G>A ENSP00000431981.1:p.Arg875Gln
ENST00000509670.1:c.*1257G>A ENSP00000423876.1:n.*1257G>A
NM_001166136.1:c.2624G>A NP_001159608.1:p.Arg875Gln
NM_147127.4:c.2864G>A NP_667338.3:p.Arg955Gln
XM_011513392.1:c.2873G>A XP_011511694.1:p.Arg958Gln
XM_011513393.1:c.2873G>A XP_011511695.1:p.Arg958Gln
XM_011513394.1:c.2633G>A XP_011511696.1:p.Arg878Gln
XM_017007736.1:c.2624G>A XP_016863225.1:p.Arg875Gln
XM_017007737.1:c.2624G>A XP_016863226.1:p.Arg875Gln
XM_017007738.1:c.2864G>A XP_016863227.1:p.Arg955Gln
XM_017007739.1:c.1184G>A XP_016863228.1:p.Arg395Gln
XM_024453893.1:c.1184G>A XP_024309661.1:p.Arg395Gln
XR_001741141.1:n.2929G>A
NM_147127.5:c.2864G>A MANE Select NP_667338.3:p.Arg955Gln
NM_001166136.2:c.2624G>A NP_001159608.1:p.Arg875Gln
Search 100 bp 5'
Search 100 bp 3'