Canonical Allele Identifier: CA2669800477
Gene: EVC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618715_5618716del , CM000666.2:g.5618715_5618716del GRCh38
NC_000004.11:g.5620442_5620443del , CM000666.1:g.5620442_5620443del GRCh37
NC_000004.10:g.5671343_5671344del NCBI36
NG_015821.1:g.95836_95837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2502-31_2502-30del MANE Select ENSP00000342144.5:n.2502-31_2502-30del
ENST00000310917.6:c.2262-31_2262-30del ENSP00000311683.2:n.2262-31_2262-30del
ENST00000344408.9:c.2502-31_2502-30del ENSP00000342144.5:n.2502-31_2502-30del
ENST00000475313.5:c.2262-31_2262-30del ENSP00000431981.1:n.2262-31_2262-30del
ENST00000509670.1:c.*895-31_*895-30del ENSP00000423876.1:n.*895-31_*895-30del
NM_001166136.1:c.2262-31_2262-30del NP_001159608.1:n.2262-31_2262-30del
NM_147127.4:c.2502-31_2502-30del NP_667338.3:n.2502-31_2502-30del
XM_011513392.1:c.2511-31_2511-30del XP_011511694.1:n.2511-31_2511-30del
XM_011513393.1:c.2511-31_2511-30del XP_011511695.1:n.2511-31_2511-30del
XM_011513394.1:c.2271-31_2271-30del XP_011511696.1:n.2271-31_2271-30del
XM_017007736.1:c.2262-31_2262-30del XP_016863225.1:n.2262-31_2262-30del
XM_017007737.1:c.2262-31_2262-30del XP_016863226.1:n.2262-31_2262-30del
XM_017007738.1:c.2502-31_2502-30del XP_016863227.1:n.2502-31_2502-30del
XM_017007739.1:c.822-31_822-30del XP_016863228.1:n.822-31_822-30del
XM_024453893.1:c.822-31_822-30del XP_024309661.1:n.822-31_822-30del
XR_001741141.1:n.2567-31_2567-30del
NM_147127.5:c.2502-31_2502-30del MANE Select NP_667338.3:n.2502-31_2502-30del
NM_001166136.2:c.2262-31_2262-30del NP_001159608.1:n.2262-31_2262-30del