Canonical Allele Identifier: CA796438019

Gene: EVC2

Linked Data

• dbSNP Id: rs1271651316
• gnomAD v3: 4-5618738-TG-T
• gnomAD v4: 4-5618738-TG-T
• MyVariant Identifiers: chr4:g.5620466del (hg19) ; chr4:g.5618739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618742del , CM000666.2:g.5618742del	GRCh38
NC_000004.11:g.5620469del , CM000666.1:g.5620469del	GRCh37
NC_000004.10:g.5671370del	NCBI36
NG_015821.1:g.95810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2502-57del MANE Select	ENSP00000342144.5:n.2502-57del
ENST00000310917.6:c.2262-57del	ENSP00000311683.2:n.2262-57del
ENST00000344408.9:c.2502-57del	ENSP00000342144.5:n.2502-57del
ENST00000475313.5:c.2262-57del	ENSP00000431981.1:n.2262-57del
ENST00000509670.1:c.*895-57del	ENSP00000423876.1:n.*895-57del
NM_001166136.1:c.2262-57del	NP_001159608.1:n.2262-57del
NM_147127.4:c.2502-57del	NP_667338.3:n.2502-57del
XM_011513392.1:c.2511-57del	XP_011511694.1:n.2511-57del
XM_011513393.1:c.2511-57del	XP_011511695.1:n.2511-57del
XM_011513394.1:c.2271-57del	XP_011511696.1:n.2271-57del
XM_017007736.1:c.2262-57del	XP_016863225.1:n.2262-57del
XM_017007737.1:c.2262-57del	XP_016863226.1:n.2262-57del
XM_017007738.1:c.2502-57del	XP_016863227.1:n.2502-57del
XM_017007739.1:c.822-57del	XP_016863228.1:n.822-57del
XM_024453893.1:c.822-57del	XP_024309661.1:n.822-57del
XR_001741141.1:n.2567-57del
NM_147127.5:c.2502-57del MANE Select	NP_667338.3:n.2502-57del
NM_001166136.2:c.2262-57del	NP_001159608.1:n.2262-57del