Canonical Allele Identifier: CA213036
Gene: EVC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30665
ClinVar RCV Id: RCV000023642
dbSNP Id: rs146538906

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618531G>A , CM000666.2:g.5618531G>A GRCh38
NC_000004.11:g.5620258G>A , CM000666.1:g.5620258G>A GRCh37
NC_000004.10:g.5671159G>A NCBI36
NG_015821.1:g.96018C>T

Transcript Alleles

HGVS Amino-acid change
NM_001166136.1:c.2413C>T VV NP_001159608.1:p.Arg805Ter
NM_147127.4:c.2653C>T VV NP_667338.3:p.Arg885Ter
XM_011513392.1:c.2662C>T XP_011511694.1:p.Arg888Ter
XM_011513393.1:c.2662C>T XP_011511695.1:p.Arg888Ter
XM_011513394.1:c.2422C>T XP_011511696.1:p.Arg808Ter
XM_017007736.1:c.2413C>T XP_016863225.1:p.Arg805Ter
XM_017007737.1:c.2413C>T XP_016863226.1:p.Arg805Ter
XM_017007738.1:c.2653C>T XP_016863227.1:p.Arg885Ter
XM_017007739.1:c.973C>T XP_016863228.1:p.Arg325Ter
XM_024453893.1:c.973C>T XP_024309661.1:p.Arg325Ter
XR_001741141.1:n.2718C>T
NM_147127.5:c.2653C>T VV MANE Preferred NP_667338.3:p.Arg885Ter
ENST00000310917.6:c.2413C>T ENSP00000311683.2:p.Arg805Ter
ENST00000344408.9:c.2653C>T ENSP00000342144.5:p.Arg885Ter
ENST00000475313.5:c.2413C>T ENSP00000431981.1:p.Arg805Ter
ENST00000509670.1:c.*1046C>T ENSP00000423876.1:p.=