Canonical Allele Identifier: CA2669800462

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618661-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618663del , CM000666.2:g.5618663del	GRCh38
NC_000004.11:g.5620390del , CM000666.1:g.5620390del	GRCh37
NC_000004.10:g.5671291del	NCBI36
NG_015821.1:g.95887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2522del MANE Select	ENSP00000342144.5:p.Phe841SerfsTer11
ENST00000310917.6:c.2282del	ENSP00000311683.2:p.Phe761SerfsTer11
ENST00000344408.9:c.2522del	ENSP00000342144.5:p.Phe841SerfsTer11
ENST00000475313.5:c.2282del	ENSP00000431981.1:p.Phe761SerfsTer11
ENST00000509670.1:c.*915del	ENSP00000423876.1:n.*915del
NM_001166136.1:c.2282del	NP_001159608.1:p.Phe761SerfsTer11
NM_147127.4:c.2522del	NP_667338.3:p.Phe841SerfsTer11
XM_011513392.1:c.2531del	XP_011511694.1:p.Phe844SerfsTer11
XM_011513393.1:c.2531del	XP_011511695.1:p.Phe844SerfsTer11
XM_011513394.1:c.2291del	XP_011511696.1:p.Phe764SerfsTer11
XM_017007736.1:c.2282del	XP_016863225.1:p.Phe761SerfsTer11
XM_017007737.1:c.2282del	XP_016863226.1:p.Phe761SerfsTer11
XM_017007738.1:c.2522del	XP_016863227.1:p.Phe841SerfsTer11
XM_017007739.1:c.842del	XP_016863228.1:p.Phe281SerfsTer11
XM_024453893.1:c.842del	XP_024309661.1:p.Phe281SerfsTer11
XR_001741141.1:n.2587del
NM_147127.5:c.2522del MANE Select	NP_667338.3:p.Phe841SerfsTer11
NM_001166136.2:c.2282del	NP_001159608.1:p.Phe761SerfsTer11