Canonical Allele Identifier: CA2834746

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622688T>C , CM000666.2:g.5622688T>C	GRCh38
NC_000004.11:g.5624415T>C , CM000666.1:g.5624415T>C	GRCh37
NC_000004.10:g.5675316T>C	NCBI36
NG_015821.1:g.91861A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.2350A>G MANE Select	NP_667338.3:p.Met784Val
ENST00000344408.10:c.2350A>G MANE Select	ENSP00000342144.5:p.Met784Val
NM_001166136.1:c.2110A>G	NP_001159608.1:p.Met704Val
NM_001166136.2:c.2110A>G	NP_001159608.1:p.Met704Val
NM_147127.4:c.2350A>G	NP_667338.3:p.Met784Val
ENST00000310917.6:c.2110A>G	ENSP00000311683.2:p.Met704Val
ENST00000344408.9:c.2350A>G	ENSP00000342144.5:p.Met784Val
ENST00000475313.5:c.2110A>G	ENSP00000431981.1:p.Met704Val
ENST00000509670.1:c.*743A>G	ENSP00000423876.1:n.*743A>G
XM_011513392.1:c.2359A>G	XP_011511694.1:p.Met787Val
XM_011513393.1:c.2359A>G	XP_011511695.1:p.Met787Val
XM_011513394.1:c.2119A>G	XP_011511696.1:p.Met707Val
XM_017007736.1:c.2110A>G	XP_016863225.1:p.Met704Val
XM_017007737.1:c.2110A>G	XP_016863226.1:p.Met704Val
XM_017007738.1:c.2350A>G	XP_016863227.1:p.Met784Val
XM_017007739.1:c.670A>G	XP_016863228.1:p.Met224Val
XM_024453893.1:c.670A>G	XP_024309661.1:p.Met224Val
XR_001741141.1:n.2415A>G