Canonical Allele Identifier: CA1435452709
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5681282A= , CM000666.2:g.5681282A= GRCh38
NC_000004.11:g.5683009A= , CM000666.1:g.5683009A= GRCh37
NC_000004.10:g.5733910A= NCBI36
NG_015821.1:g.33267T=

Transcript Alleles

HGVS Amino-acid Change
NM_147127.5:c.848T= MANE Select NP_667338.3:p.Ile283=
ENST00000344408.10:c.848T= MANE Select ENSP00000342144.5:p.Ile283=
NM_001166136.1:c.608T= NP_001159608.1:p.Ile203=
NM_001166136.2:c.608T= NP_001159608.1:p.Ile203=
NM_147127.4:c.848T= NP_667338.3:p.Ile283=
ENST00000310917.6:c.608T= ENSP00000311683.2:p.Ile203=
ENST00000344408.9:c.848T= ENSP00000342144.5:p.Ile283=
ENST00000475313.5:c.608T= ENSP00000431981.1:p.Ile203=
ENST00000509670.1:c.608T= ENSP00000423876.1:p.Ile203=
XM_011513392.1:c.848T= XP_011511694.1:p.Ile283=
XM_011513393.1:c.848T= XP_011511695.1:p.Ile283=
XM_011513394.1:c.608T= XP_011511696.1:p.Ile203=
XM_017007736.1:c.608T= XP_016863225.1:p.Ile203=
XM_017007737.1:c.608T= XP_016863226.1:p.Ile203=
XM_017007738.1:c.848T= XP_016863227.1:p.Ile283=
XM_017007739.1:c.-825T= XP_016863228.1:n.-825T=
XM_024453893.1:c.-929T= XP_024309661.1:n.-929T=
XR_001741141.1:n.913T=