Canonical Allele Identifier: CA2834948
Gene: EVC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 349080
dbSNP Id: rs113869406
gnomAD v2: 4-5630442-A-G
gnomAD v3: 4-5628715-A-G
gnomAD v4: 4-5628715-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628715A>G , CM000666.2:g.5628715A>G GRCh38
NC_000004.11:g.5630442A>G , CM000666.1:g.5630442A>G GRCh37
NC_000004.10:g.5681343A>G NCBI36
NG_015821.1:g.85834T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1730T>C MANE Select ENSP00000342144.5:p.Met577Thr
ENST00000310917.6:c.1490T>C ENSP00000311683.2:p.Met497Thr
ENST00000344408.9:c.1730T>C ENSP00000342144.5:p.Met577Thr
ENST00000475313.5:c.1490T>C ENSP00000431981.1:p.Met497Thr
ENST00000509670.1:c.*123T>C ENSP00000423876.1:n.*123T>C
NM_001166136.1:c.1490T>C NP_001159608.1:p.Met497Thr
NM_147127.4:c.1730T>C NP_667338.3:p.Met577Thr
XM_011513392.1:c.1739T>C XP_011511694.1:p.Met580Thr
XM_011513393.1:c.1739T>C XP_011511695.1:p.Met580Thr
XM_011513394.1:c.1499T>C XP_011511696.1:p.Met500Thr
XM_017007736.1:c.1490T>C XP_016863225.1:p.Met497Thr
XM_017007737.1:c.1490T>C XP_016863226.1:p.Met497Thr
XM_017007738.1:c.1730T>C XP_016863227.1:p.Met577Thr
XM_017007739.1:c.50T>C XP_016863228.1:p.Met17Thr
XM_024453893.1:c.50T>C XP_024309661.1:p.Met17Thr
XR_001741141.1:n.1795T>C
NM_147127.5:c.1730T>C MANE Select NP_667338.3:p.Met577Thr
NM_001166136.2:c.1490T>C NP_001159608.1:p.Met497Thr