Canonical Allele Identifier: CA356143341
Gene: EVC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618571G>C , CM000666.2:g.5618571G>C GRCh38
NC_000004.11:g.5620298G>C , CM000666.1:g.5620298G>C GRCh37
NC_000004.10:g.5671199G>C NCBI36
NG_015821.1:g.95978C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2613C>G MANE Select ENSP00000342144.5:p.Ile871Met
ENST00000310917.6:c.2373C>G ENSP00000311683.2:p.Ile791Met
ENST00000344408.9:c.2613C>G ENSP00000342144.5:p.Ile871Met
ENST00000475313.5:c.2373C>G ENSP00000431981.1:p.Ile791Met
ENST00000509670.1:c.*1006C>G ENSP00000423876.1:n.*1006C>G
NM_001166136.1:c.2373C>G NP_001159608.1:p.Ile791Met
NM_147127.4:c.2613C>G NP_667338.3:p.Ile871Met
XM_011513392.1:c.2622C>G XP_011511694.1:p.Ile874Met
XM_011513393.1:c.2622C>G XP_011511695.1:p.Ile874Met
XM_011513394.1:c.2382C>G XP_011511696.1:p.Ile794Met
XM_017007736.1:c.2373C>G XP_016863225.1:p.Ile791Met
XM_017007737.1:c.2373C>G XP_016863226.1:p.Ile791Met
XM_017007738.1:c.2613C>G XP_016863227.1:p.Ile871Met
XM_017007739.1:c.933C>G XP_016863228.1:p.Ile311Met
XM_024453893.1:c.933C>G XP_024309661.1:p.Ile311Met
XR_001741141.1:n.2678C>G
NM_147127.5:c.2613C>G MANE Select NP_667338.3:p.Ile871Met
NM_001166136.2:c.2373C>G NP_001159608.1:p.Ile791Met