Canonical Allele Identifier: CA2669800476

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618708-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618709_5618710del , CM000666.2:g.5618709_5618710del	GRCh38
NC_000004.11:g.5620436_5620437del , CM000666.1:g.5620436_5620437del	GRCh37
NC_000004.10:g.5671337_5671338del	NCBI36
NG_015821.1:g.95839_95840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2502-28_2502-27del MANE Select	ENSP00000342144.5:n.2502-28_2502-27del
ENST00000310917.6:c.2262-28_2262-27del	ENSP00000311683.2:n.2262-28_2262-27del
ENST00000344408.9:c.2502-28_2502-27del	ENSP00000342144.5:n.2502-28_2502-27del
ENST00000475313.5:c.2262-28_2262-27del	ENSP00000431981.1:n.2262-28_2262-27del
ENST00000509670.1:c.*895-28_*895-27del	ENSP00000423876.1:n.*895-28_*895-27del
NM_001166136.1:c.2262-28_2262-27del	NP_001159608.1:n.2262-28_2262-27del
NM_147127.4:c.2502-28_2502-27del	NP_667338.3:n.2502-28_2502-27del
XM_011513392.1:c.2511-28_2511-27del	XP_011511694.1:n.2511-28_2511-27del
XM_011513393.1:c.2511-28_2511-27del	XP_011511695.1:n.2511-28_2511-27del
XM_011513394.1:c.2271-28_2271-27del	XP_011511696.1:n.2271-28_2271-27del
XM_017007736.1:c.2262-28_2262-27del	XP_016863225.1:n.2262-28_2262-27del
XM_017007737.1:c.2262-28_2262-27del	XP_016863226.1:n.2262-28_2262-27del
XM_017007738.1:c.2502-28_2502-27del	XP_016863227.1:n.2502-28_2502-27del
XM_017007739.1:c.822-28_822-27del	XP_016863228.1:n.822-28_822-27del
XM_024453893.1:c.822-28_822-27del	XP_024309661.1:n.822-28_822-27del
XR_001741141.1:n.2567-28_2567-27del
NM_147127.5:c.2502-28_2502-27del MANE Select	NP_667338.3:n.2502-28_2502-27del
NM_001166136.2:c.2262-28_2262-27del	NP_001159608.1:n.2262-28_2262-27del