Canonical Allele Identifier: CA2740091125

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2951502
• ClinVar RCV Id: RCV003805204

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628637_5628638del , CM000666.2:g.5628637_5628638del	GRCh38
NC_000004.11:g.5630364_5630365del , CM000666.1:g.5630364_5630365del	GRCh37
NC_000004.10:g.5681265_5681266del	NCBI36
NG_015821.1:g.85911_85912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1807_1808del MANE Select	ENSP00000342144.5:p.Gln603ValfsTer?
ENST00000310917.6:c.1567_1568del	ENSP00000311683.2:p.Gln523ValfsTer?
ENST00000344408.9:c.1807_1808del	ENSP00000342144.5:p.Gln603ValfsTer?
ENST00000475313.5:c.1567_1568del	ENSP00000431981.1:p.Gln523ValfsTer?
ENST00000509670.1:c.*200_*201del	ENSP00000423876.1:n.*200_*201del
NM_001166136.1:c.1567_1568del	NP_001159608.1:p.Gln523ValfsTer?
NM_147127.4:c.1807_1808del	NP_667338.3:p.Gln603ValfsTer?
XM_011513392.1:c.1816_1817del	XP_011511694.1:p.Gln606ValfsTer?
XM_011513393.1:c.1816_1817del	XP_011511695.1:p.Gln606ValfsTer?
XM_011513394.1:c.1576_1577del	XP_011511696.1:p.Gln526ValfsTer?
XM_017007736.1:c.1567_1568del	XP_016863225.1:p.Gln523ValfsTer?
XM_017007737.1:c.1567_1568del	XP_016863226.1:p.Gln523ValfsTer?
XM_017007738.1:c.1807_1808del	XP_016863227.1:p.Gln603ValfsTer?
XM_017007739.1:c.127_128del	XP_016863228.1:p.Gln43ValfsTer?
XM_024453893.1:c.127_128del	XP_024309661.1:p.Gln43ValfsTer?
XR_001741141.1:n.1872_1873del
NM_147127.5:c.1807_1808del MANE Select	NP_667338.3:p.Gln603ValfsTer?
NM_001166136.2:c.1567_1568del	NP_001159608.1:p.Gln523ValfsTer?