Canonical Allele Identifier: CA356146018

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5625828A>T , CM000666.2:g.5625828A>T	GRCh38
NC_000004.11:g.5627555A>T , CM000666.1:g.5627555A>T	GRCh37
NC_000004.10:g.5678456A>T	NCBI36
NG_015821.1:g.88721T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1967T>A MANE Select	NP_667338.3:p.Leu656Ter
ENST00000344408.10:c.1967T>A MANE Select	ENSP00000342144.5:p.Leu656Ter
NM_001166136.1:c.1727T>A	NP_001159608.1:p.Leu576Ter
NM_001166136.2:c.1727T>A	NP_001159608.1:p.Leu576Ter
NM_147127.4:c.1967T>A	NP_667338.3:p.Leu656Ter
ENST00000310917.6:c.1727T>A	ENSP00000311683.2:p.Leu576Ter
ENST00000344408.9:c.1967T>A	ENSP00000342144.5:p.Leu656Ter
ENST00000475313.5:c.1727T>A	ENSP00000431981.1:p.Leu576Ter
ENST00000509670.1:c.*360T>A	ENSP00000423876.1:n.*360T>A
XM_011513392.1:c.1976T>A	XP_011511694.1:p.Leu659Ter
XM_011513393.1:c.1976T>A	XP_011511695.1:p.Leu659Ter
XM_011513394.1:c.1736T>A	XP_011511696.1:p.Leu579Ter
XM_017007736.1:c.1727T>A	XP_016863225.1:p.Leu576Ter
XM_017007737.1:c.1727T>A	XP_016863226.1:p.Leu576Ter
XM_017007738.1:c.1967T>A	XP_016863227.1:p.Leu656Ter
XM_017007739.1:c.287T>A	XP_016863228.1:p.Leu96Ter
XM_024453893.1:c.287T>A	XP_024309661.1:p.Leu96Ter
XR_001741141.1:n.2032T>A