Canonical Allele Identifier: CA116172
Gene: EVC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3386
dbSNP Id: rs137852927
gnomAD v2: 4-5577974-G-A
gnomAD v3: 4-5576247-G-A
gnomAD v4: 4-5576247-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5576247G>A , CM000666.2:g.5576247G>A GRCh38
NC_000004.11:g.5577974G>A , CM000666.1:g.5577974G>A GRCh37
NC_000004.10:g.5628875G>A NCBI36
NG_015821.1:g.138302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344408.10:c.3265C>T MANE Select ENSP00000342144.5:p.Gln1089Ter
ENST00000310917.6:c.3025C>T ENSP00000311683.2:p.Gln1009Ter
ENST00000344408.9:c.3265C>T ENSP00000342144.5:p.Gln1089Ter
ENST00000475313.5:c.3025C>T ENSP00000431981.1:p.Gln1009Ter
ENST00000509670.1:c.*1658C>T ENSP00000423876.1:n.*1658C>T
NM_001166136.1:c.3025C>T NP_001159608.1:p.Gln1009Ter
NM_147127.4:c.3265C>T NP_667338.3:p.Gln1089Ter
XM_011513392.1:c.3274C>T XP_011511694.1:p.Gln1092Ter
XM_011513393.1:c.3274C>T XP_011511695.1:p.Gln1092Ter
XM_011513394.1:c.3034C>T XP_011511696.1:p.Gln1012Ter
XM_017007736.1:c.3025C>T XP_016863225.1:p.Gln1009Ter
XM_017007737.1:c.3025C>T XP_016863226.1:p.Gln1009Ter
XM_017007738.1:c.3265C>T XP_016863227.1:p.Gln1089Ter
XM_017007739.1:c.1585C>T XP_016863228.1:p.Gln529Ter
XM_024453893.1:c.1585C>T XP_024309661.1:p.Gln529Ter
XR_001741141.1:n.3123-1475C>T
NM_147127.5:c.3265C>T MANE Select NP_667338.3:p.Gln1089Ter
NM_001166136.2:c.3025C>T NP_001159608.1:p.Gln1009Ter