Canonical Allele Identifier: CA2834404

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5576261A>T , CM000666.2:g.5576261A>T	GRCh38
NC_000004.11:g.5577988A>T , CM000666.1:g.5577988A>T	GRCh37
NC_000004.10:g.5628889A>T	NCBI36
NG_015821.1:g.138288T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3251T>A MANE Select	NP_667338.3:p.Leu1084Ter
ENST00000344408.10:c.3251T>A MANE Select	ENSP00000342144.5:p.Leu1084Ter
NM_001166136.1:c.3011T>A	NP_001159608.1:p.Leu1004Ter
NM_001166136.2:c.3011T>A	NP_001159608.1:p.Leu1004Ter
NM_147127.4:c.3251T>A	NP_667338.3:p.Leu1084Ter
ENST00000310917.6:c.3011T>A	ENSP00000311683.2:p.Leu1004Ter
ENST00000344408.9:c.3251T>A	ENSP00000342144.5:p.Leu1084Ter
ENST00000475313.5:c.3011T>A	ENSP00000431981.1:p.Leu1004Ter
ENST00000509670.1:c.*1644T>A	ENSP00000423876.1:n.*1644T>A
XM_011513392.1:c.3260T>A	XP_011511694.1:p.Leu1087Ter
XM_011513393.1:c.3260T>A	XP_011511695.1:p.Leu1087Ter
XM_011513394.1:c.3020T>A	XP_011511696.1:p.Leu1007Ter
XM_017007736.1:c.3011T>A	XP_016863225.1:p.Leu1004Ter
XM_017007737.1:c.3011T>A	XP_016863226.1:p.Leu1004Ter
XM_017007738.1:c.3251T>A	XP_016863227.1:p.Leu1084Ter
XM_017007739.1:c.1571T>A	XP_016863228.1:p.Leu524Ter
XM_024453893.1:c.1571T>A	XP_024309661.1:p.Leu524Ter
XR_001741141.1:n.3123-1489T>A