Canonical Allele Identifier: CA356149425

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5631974A>T , CM000666.2:g.5631974A>T	GRCh38
NC_000004.11:g.5633701A>T , CM000666.1:g.5633701A>T	GRCh37
NC_000004.10:g.5684602A>T	NCBI36
NG_015821.1:g.82575T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1529T>A MANE Select	NP_667338.3:p.Leu510Ter
ENST00000344408.10:c.1529T>A MANE Select	ENSP00000342144.5:p.Leu510Ter
NM_001166136.1:c.1289T>A	NP_001159608.1:p.Leu430Ter
NM_001166136.2:c.1289T>A	NP_001159608.1:p.Leu430Ter
NM_147127.4:c.1529T>A	NP_667338.3:p.Leu510Ter
ENST00000310917.6:c.1289T>A	ENSP00000311683.2:p.Leu430Ter
ENST00000344408.9:c.1529T>A	ENSP00000342144.5:p.Leu510Ter
ENST00000475313.5:c.1289T>A	ENSP00000431981.1:p.Leu430Ter
ENST00000509670.1:c.1281T>A	ENSP00000423876.1:p.Leu427=
XM_011513392.1:c.1538T>A	XP_011511694.1:p.Leu513Ter
XM_011513393.1:c.1538T>A	XP_011511695.1:p.Leu513Ter
XM_011513394.1:c.1298T>A	XP_011511696.1:p.Leu433Ter
XM_017007736.1:c.1289T>A	XP_016863225.1:p.Leu430Ter
XM_017007737.1:c.1289T>A	XP_016863226.1:p.Leu430Ter
XM_017007738.1:c.1529T>A	XP_016863227.1:p.Leu510Ter
XM_017007739.1:c.-152T>A	XP_016863228.1:n.-152T>A
XM_024453893.1:c.-152T>A	XP_024309661.1:n.-152T>A
XR_001741141.1:n.1594T>A