Canonical Allele Identifier: CA356146366

Gene: EVC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562921A>T , CM000666.2:g.5562921A>T	GRCh38
NC_000004.11:g.5564648A>T , CM000666.1:g.5564648A>T	GRCh37
NC_000004.10:g.5615549A>T	NCBI36
NG_015821.1:g.151628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3854T>A MANE Select	ENSP00000342144.5:p.Leu1285Gln
ENST00000310917.6:c.3614T>A	ENSP00000311683.2:p.Leu1205Gln
ENST00000344408.9:c.3854T>A	ENSP00000342144.5:p.Leu1285Gln
ENST00000475313.5:c.3419+2337T>A	ENSP00000431981.1:n.3419+2337T>A
ENST00000509670.1:c.*2247T>A	ENSP00000423876.1:n.*2247T>A
NM_001166136.1:c.3614T>A	NP_001159608.1:p.Leu1205Gln
NM_147127.4:c.3854T>A	NP_667338.3:p.Leu1285Gln
XM_011513392.1:c.3863T>A	XP_011511694.1:p.Leu1288Gln
XM_011513393.1:c.3668+2337T>A	XP_011511695.1:n.3668+2337T>A
XM_011513394.1:c.3623T>A	XP_011511696.1:p.Leu1208Gln
XM_017007736.1:c.3614T>A	XP_016863225.1:p.Leu1205Gln
XM_017007737.1:c.3614T>A	XP_016863226.1:p.Leu1205Gln
XM_017007739.1:c.2174T>A	XP_016863228.1:p.Leu725Gln
XM_024453893.1:c.2174T>A	XP_024309661.1:p.Leu725Gln
XR_001741141.1:n.3704T>A
NM_147127.5:c.3854T>A MANE Select	NP_667338.3:p.Leu1285Gln
NM_001166136.2:c.3614T>A	NP_001159608.1:p.Leu1205Gln