Canonical Allele Identifier: CA356147034

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563023T>C , CM000666.2:g.5563023T>C	GRCh38
NC_000004.11:g.5564750T>C , CM000666.1:g.5564750T>C	GRCh37
NC_000004.10:g.5615651T>C	NCBI36
NG_015821.1:g.151526A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3752A>G MANE Select	NP_667338.3:p.Glu1251Gly
ENST00000344408.10:c.3752A>G MANE Select	ENSP00000342144.5:p.Glu1251Gly
NM_001166136.1:c.3512A>G	NP_001159608.1:p.Glu1171Gly
NM_001166136.2:c.3512A>G	NP_001159608.1:p.Glu1171Gly
NM_147127.4:c.3752A>G	NP_667338.3:p.Glu1251Gly
ENST00000310917.6:c.3512A>G	ENSP00000311683.2:p.Glu1171Gly
ENST00000344408.9:c.3752A>G	ENSP00000342144.5:p.Glu1251Gly
ENST00000475313.5:c.3419+2235A>G	ENSP00000431981.1:n.3419+2235A>G
ENST00000509670.1:c.*2145A>G	ENSP00000423876.1:n.*2145A>G
XM_011513392.1:c.3761A>G	XP_011511694.1:p.Glu1254Gly
XM_011513393.1:c.3668+2235A>G	XP_011511695.1:n.3668+2235A>G
XM_011513394.1:c.3521A>G	XP_011511696.1:p.Glu1174Gly
XM_017007736.1:c.3512A>G	XP_016863225.1:p.Glu1171Gly
XM_017007737.1:c.3512A>G	XP_016863226.1:p.Glu1171Gly
XM_017007739.1:c.2072A>G	XP_016863228.1:p.Glu691Gly
XM_024453893.1:c.2072A>G	XP_024309661.1:p.Glu691Gly
XR_001741141.1:n.3602A>G