Canonical Allele Identifier: CA2669800461

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618584-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618586dup , CM000666.2:g.5618586dup	GRCh38
NC_000004.11:g.5620313dup , CM000666.1:g.5620313dup	GRCh37
NC_000004.10:g.5671214dup	NCBI36
NG_015821.1:g.95964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2599dup MANE Select	ENSP00000342144.5:p.Ala867GlyfsTer?
ENST00000310917.6:c.2359dup	ENSP00000311683.2:p.Ala787GlyfsTer?
ENST00000344408.9:c.2599dup	ENSP00000342144.5:p.Ala867GlyfsTer?
ENST00000475313.5:c.2359dup	ENSP00000431981.1:p.Ala787GlyfsTer?
ENST00000509670.1:c.*992dup	ENSP00000423876.1:n.*992dup
NM_001166136.1:c.2359dup	NP_001159608.1:p.Ala787GlyfsTer?
NM_147127.4:c.2599dup	NP_667338.3:p.Ala867GlyfsTer?
XM_011513392.1:c.2608dup	XP_011511694.1:p.Ala870GlyfsTer?
XM_011513393.1:c.2608dup	XP_011511695.1:p.Ala870GlyfsTer?
XM_011513394.1:c.2368dup	XP_011511696.1:p.Ala790GlyfsTer?
XM_017007736.1:c.2359dup	XP_016863225.1:p.Ala787GlyfsTer?
XM_017007737.1:c.2359dup	XP_016863226.1:p.Ala787GlyfsTer?
XM_017007738.1:c.2599dup	XP_016863227.1:p.Ala867GlyfsTer?
XM_017007739.1:c.919dup	XP_016863228.1:p.Ala307GlyfsTer?
XM_024453893.1:c.919dup	XP_024309661.1:p.Ala307GlyfsTer?
XR_001741141.1:n.2664dup
NM_147127.5:c.2599dup MANE Select	NP_667338.3:p.Ala867GlyfsTer?
NM_001166136.2:c.2359dup	NP_001159608.1:p.Ala787GlyfsTer?