Canonical Allele Identifier: CA1435421792
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618655C= , CM000666.2:g.5618655C= GRCh38
NC_000004.11:g.5620382C= , CM000666.1:g.5620382C= GRCh37
NC_000004.10:g.5671283C= NCBI36
NG_015821.1:g.95894G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2529G= MANE Select ENSP00000342144.5:p.Leu843=
ENST00000310917.6:c.2289G= ENSP00000311683.2:p.Leu763=
ENST00000344408.9:c.2529G= ENSP00000342144.5:p.Leu843=
ENST00000475313.5:c.2289G= ENSP00000431981.1:p.Leu763=
ENST00000509670.1:c.*922G= ENSP00000423876.1:n.*922G=
NM_001166136.1:c.2289G= NP_001159608.1:p.Leu763=
NM_147127.4:c.2529G= NP_667338.3:p.Leu843=
XM_011513392.1:c.2538G= XP_011511694.1:p.Leu846=
XM_011513393.1:c.2538G= XP_011511695.1:p.Leu846=
XM_011513394.1:c.2298G= XP_011511696.1:p.Leu766=
XM_017007736.1:c.2289G= XP_016863225.1:p.Leu763=
XM_017007737.1:c.2289G= XP_016863226.1:p.Leu763=
XM_017007738.1:c.2529G= XP_016863227.1:p.Leu843=
XM_017007739.1:c.849G= XP_016863228.1:p.Leu283=
XM_024453893.1:c.849G= XP_024309661.1:p.Leu283=
XR_001741141.1:n.2594G=
NM_147127.5:c.2529G= MANE Select NP_667338.3:p.Leu843=
NM_001166136.2:c.2289G= NP_001159608.1:p.Leu763=