Canonical Allele Identifier: CA917119495

Gene: EVC2

Linked Data

• dbSNP Id: rs1560169223
• gnomAD v4: 4-5618790-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618795del , CM000666.2:g.5618795del	GRCh38
NC_000004.11:g.5620522del , CM000666.1:g.5620522del	GRCh37
NC_000004.10:g.5671423del	NCBI36
NG_015821.1:g.95758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2502-109del MANE Select	ENSP00000342144.5:n.2502-109del
ENST00000310917.6:c.2262-109del	ENSP00000311683.2:n.2262-109del
ENST00000344408.9:c.2502-109del	ENSP00000342144.5:n.2502-109del
ENST00000475313.5:c.2262-109del	ENSP00000431981.1:n.2262-109del
ENST00000509670.1:c.*895-109del	ENSP00000423876.1:n.*895-109del
NM_001166136.1:c.2262-109del	NP_001159608.1:n.2262-109del
NM_147127.4:c.2502-109del	NP_667338.3:n.2502-109del
XM_011513392.1:c.2511-109del	XP_011511694.1:n.2511-109del
XM_011513393.1:c.2511-109del	XP_011511695.1:n.2511-109del
XM_011513394.1:c.2271-109del	XP_011511696.1:n.2271-109del
XM_017007736.1:c.2262-109del	XP_016863225.1:n.2262-109del
XM_017007737.1:c.2262-109del	XP_016863226.1:n.2262-109del
XM_017007738.1:c.2502-109del	XP_016863227.1:n.2502-109del
XM_017007739.1:c.822-109del	XP_016863228.1:n.822-109del
XM_024453893.1:c.822-109del	XP_024309661.1:n.822-109del
XR_001741141.1:n.2567-109del
NM_147127.5:c.2502-109del MANE Select	NP_667338.3:n.2502-109del
NM_001166136.2:c.2262-109del	NP_001159608.1:n.2262-109del