Canonical Allele Identifier: CA658821382

Gene: EVC2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562913del , CM000666.2:g.5562913del	GRCh38
NC_000004.11:g.5564640del , CM000666.1:g.5564640del	GRCh37
NC_000004.10:g.5615541del	NCBI36
NG_015821.1:g.151637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3863del MANE Select	ENSP00000342144.5:p.Pro1288LeufsTer9
ENST00000310917.6:c.3623del	ENSP00000311683.2:p.Pro1208LeufsTer9
ENST00000344408.9:c.3863del	ENSP00000342144.5:p.Pro1288LeufsTer9
ENST00000475313.5:c.3419+2346del	ENSP00000431981.1:n.3419+2346del
ENST00000509670.1:c.*2256del	ENSP00000423876.1:n.*2256del
NM_001166136.1:c.3623del	NP_001159608.1:p.Pro1208LeufsTer9
NM_147127.4:c.3863del	NP_667338.3:p.Pro1288LeufsTer9
XM_011513392.1:c.3872del	XP_011511694.1:p.Pro1291LeufsTer9
XM_011513393.1:c.3668+2346del	XP_011511695.1:n.3668+2346del
XM_011513394.1:c.3632del	XP_011511696.1:p.Pro1211LeufsTer9
XM_017007736.1:c.3623del	XP_016863225.1:p.Pro1208LeufsTer9
XM_017007737.1:c.3623del	XP_016863226.1:p.Pro1208LeufsTer9
XM_017007739.1:c.2183del	XP_016863228.1:p.Pro728LeufsTer9
XM_024453893.1:c.2183del	XP_024309661.1:p.Pro728LeufsTer9
XR_001741141.1:n.3713del
NM_147127.5:c.3863del MANE Select	NP_667338.3:p.Pro1288LeufsTer9
NM_001166136.2:c.3623del	NP_001159608.1:p.Pro1208LeufsTer9