Canonical Allele Identifier: CA356144714

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622728C>G , CM000666.2:g.5622728C>G	GRCh38
NC_000004.11:g.5624455C>G , CM000666.1:g.5624455C>G	GRCh37
NC_000004.10:g.5675356C>G	NCBI36
NG_015821.1:g.91821G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.2310G>C MANE Select	NP_667338.3:p.Trp770Cys
ENST00000344408.10:c.2310G>C MANE Select	ENSP00000342144.5:p.Trp770Cys
NM_001166136.1:c.2070G>C	NP_001159608.1:p.Trp690Cys
NM_001166136.2:c.2070G>C	NP_001159608.1:p.Trp690Cys
NM_147127.4:c.2310G>C	NP_667338.3:p.Trp770Cys
ENST00000310917.6:c.2070G>C	ENSP00000311683.2:p.Trp690Cys
ENST00000344408.9:c.2310G>C	ENSP00000342144.5:p.Trp770Cys
ENST00000475313.5:c.2070G>C	ENSP00000431981.1:p.Trp690Cys
ENST00000509670.1:c.*703G>C	ENSP00000423876.1:n.*703G>C
XM_011513392.1:c.2319G>C	XP_011511694.1:p.Trp773Cys
XM_011513393.1:c.2319G>C	XP_011511695.1:p.Trp773Cys
XM_011513394.1:c.2079G>C	XP_011511696.1:p.Trp693Cys
XM_017007736.1:c.2070G>C	XP_016863225.1:p.Trp690Cys
XM_017007737.1:c.2070G>C	XP_016863226.1:p.Trp690Cys
XM_017007738.1:c.2310G>C	XP_016863227.1:p.Trp770Cys
XM_017007739.1:c.630G>C	XP_016863228.1:p.Trp210Cys
XM_024453893.1:c.630G>C	XP_024309661.1:p.Trp210Cys
XR_001741141.1:n.2375G>C