Canonical Allele Identifier: CA1435424809
Gene: EVC2 HGNC NCBI

Linked Data

dbSNP Id: rs1716293982

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628555del , CM000666.2:g.5628555del GRCh38
NC_000004.11:g.5630282del , CM000666.1:g.5630282del GRCh37
NC_000004.10:g.5681183del NCBI36
NG_015821.1:g.85995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1886+5del MANE Select ENSP00000342144.5:n.1886+5del
ENST00000310917.6:c.1646+5del ENSP00000311683.2:n.1646+5del
ENST00000344408.9:c.1886+5del ENSP00000342144.5:n.1886+5del
ENST00000475313.5:c.1646+5del ENSP00000431981.1:n.1646+5del
ENST00000509670.1:c.*279+5del ENSP00000423876.1:n.*279+5del
NM_001166136.1:c.1646+5del NP_001159608.1:n.1646+5del
NM_147127.4:c.1886+5del NP_667338.3:n.1886+5del
XM_011513392.1:c.1895+5del XP_011511694.1:n.1895+5del
XM_011513393.1:c.1895+5del XP_011511695.1:n.1895+5del
XM_011513394.1:c.1655+5del XP_011511696.1:n.1655+5del
XM_017007736.1:c.1646+5del XP_016863225.1:n.1646+5del
XM_017007737.1:c.1646+5del XP_016863226.1:n.1646+5del
XM_017007738.1:c.1886+5del XP_016863227.1:n.1886+5del
XM_017007739.1:c.206+5del XP_016863228.1:n.206+5del
XM_024453893.1:c.206+5del XP_024309661.1:n.206+5del
XR_001741141.1:n.1951+5del
NM_147127.5:c.1886+5del MANE Select NP_667338.3:n.1886+5del
NM_001166136.2:c.1646+5del NP_001159608.1:n.1646+5del