Canonical Allele Identifier: CA3047144709

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563022_5563023insCTG , CM000666.2:g.5563022_5563023insCTG	GRCh38
NC_000004.11:g.5564749_5564750insCTG , CM000666.1:g.5564749_5564750insCTG	GRCh37
NC_000004.10:g.5615650_5615651insCTG	NCBI36
NG_015821.1:g.151526_151527insCAG

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3752_3753insCAG MANE Select	NP_667338.3:p.Glu1251delinsAspArg
ENST00000344408.10:c.3752_3753insCAG MANE Select	ENSP00000342144.5:p.Glu1251delinsAspArg
NM_001166136.1:c.3512_3513insCAG	NP_001159608.1:p.Glu1171delinsAspArg
NM_001166136.2:c.3512_3513insCAG	NP_001159608.1:p.Glu1171delinsAspArg
NM_147127.4:c.3752_3753insCAG	NP_667338.3:p.Glu1251delinsAspArg
ENST00000310917.6:c.3512_3513insCAG	ENSP00000311683.2:p.Glu1171delinsAspArg
ENST00000344408.9:c.3752_3753insCAG	ENSP00000342144.5:p.Glu1251delinsAspArg
ENST00000475313.5:c.3419+2235_3419+2236insCAG	ENSP00000431981.1:n.3419+2235_3419+2236insCAG
ENST00000509670.1:c.*2145_*2146insCAG	ENSP00000423876.1:n.*2145_*2146insCAG
XM_011513392.1:c.3761_3762insCAG	XP_011511694.1:p.Glu1254delinsAspArg
XM_011513393.1:c.3668+2235_3668+2236insCAG	XP_011511695.1:n.3668+2235_3668+2236insCAG
XM_011513394.1:c.3521_3522insCAG	XP_011511696.1:p.Glu1174delinsAspArg
XM_017007736.1:c.3512_3513insCAG	XP_016863225.1:p.Glu1171delinsAspArg
XM_017007737.1:c.3512_3513insCAG	XP_016863226.1:p.Glu1171delinsAspArg
XM_017007739.1:c.2072_2073insCAG	XP_016863228.1:p.Glu691delinsAspArg
XM_024453893.1:c.2072_2073insCAG	XP_024309661.1:p.Glu691delinsAspArg
XR_001741141.1:n.3602_3603insCAG