Canonical Allele Identifier: CA549707404

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2922844
• ClinVar RCV Id: RCV003788010
• dbSNP Id: rs1167416045
• gnomAD v2: 4-5630378-CAGATAT-C
• gnomAD v4: 4-5628651-CAGATAT-C
• MyVariant Identifiers: chr4:g.5630379_5630384del (hg19) ; chr4:g.5628652_5628657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628652_5628657del , CM000666.2:g.5628652_5628657del	GRCh38
NC_000004.11:g.5630379_5630384del , CM000666.1:g.5630379_5630384del	GRCh37
NC_000004.10:g.5681280_5681285del	NCBI36
NG_015821.1:g.85892_85897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1788_1793del MANE Select	ENSP00000342144.5:p.Tyr597_Leu598del
ENST00000310917.6:c.1548_1553del	ENSP00000311683.2:p.Tyr517_Leu518del
ENST00000344408.9:c.1788_1793del	ENSP00000342144.5:p.Tyr597_Leu598del
ENST00000475313.5:c.1548_1553del	ENSP00000431981.1:p.Tyr517_Leu518del
ENST00000509670.1:c.*181_*186del	ENSP00000423876.1:n.*181_*186del
NM_001166136.1:c.1548_1553del	NP_001159608.1:p.Tyr517_Leu518del
NM_147127.4:c.1788_1793del	NP_667338.3:p.Tyr597_Leu598del
XM_011513392.1:c.1797_1802del	XP_011511694.1:p.Tyr600_Leu601del
XM_011513393.1:c.1797_1802del	XP_011511695.1:p.Tyr600_Leu601del
XM_011513394.1:c.1557_1562del	XP_011511696.1:p.Tyr520_Leu521del
XM_017007736.1:c.1548_1553del	XP_016863225.1:p.Tyr517_Leu518del
XM_017007737.1:c.1548_1553del	XP_016863226.1:p.Tyr517_Leu518del
XM_017007738.1:c.1788_1793del	XP_016863227.1:p.Tyr597_Leu598del
XM_017007739.1:c.108_113del	XP_016863228.1:p.Tyr37_Leu38del
XM_024453893.1:c.108_113del	XP_024309661.1:p.Tyr37_Leu38del
XR_001741141.1:n.1853_1858del
NM_147127.5:c.1788_1793del MANE Select	NP_667338.3:p.Tyr597_Leu598del
NM_001166136.2:c.1548_1553del	NP_001159608.1:p.Tyr517_Leu518del