Canonical Allele Identifier: CA2740091127

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2922401
• ClinVar RCV Id: RCV003785615

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618667_5618668delinsCT , CM000666.2:g.5618667_5618668delinsCT	GRCh38
NC_000004.11:g.5620394_5620395delinsCT , CM000666.1:g.5620394_5620395delinsCT	GRCh37
NC_000004.10:g.5671295_5671296delinsCT	NCBI36
NG_015821.1:g.95881_95882delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2516_2517delinsAG MANE Select	ENSP00000342144.5:p.Ser839Ter
ENST00000310917.6:c.2276_2277delinsAG	ENSP00000311683.2:p.Ser759Ter
ENST00000344408.9:c.2516_2517delinsAG	ENSP00000342144.5:p.Ser839Ter
ENST00000475313.5:c.2276_2277delinsAG	ENSP00000431981.1:p.Ser759Ter
ENST00000509670.1:c.*909_*910delinsAG	ENSP00000423876.1:n.*909_*910delinsAG
NM_001166136.1:c.2276_2277delinsAG	NP_001159608.1:p.Ser759Ter
NM_147127.4:c.2516_2517delinsAG	NP_667338.3:p.Ser839Ter
XM_011513392.1:c.2525_2526delinsAG	XP_011511694.1:p.Ser842Ter
XM_011513393.1:c.2525_2526delinsAG	XP_011511695.1:p.Ser842Ter
XM_011513394.1:c.2285_2286delinsAG	XP_011511696.1:p.Ser762Ter
XM_017007736.1:c.2276_2277delinsAG	XP_016863225.1:p.Ser759Ter
XM_017007737.1:c.2276_2277delinsAG	XP_016863226.1:p.Ser759Ter
XM_017007738.1:c.2516_2517delinsAG	XP_016863227.1:p.Ser839Ter
XM_017007739.1:c.836_837delinsAG	XP_016863228.1:p.Ser279Ter
XM_024453893.1:c.836_837delinsAG	XP_024309661.1:p.Ser279Ter
XR_001741141.1:n.2581_2582delinsAG
NM_147127.5:c.2516_2517delinsAG MANE Select	NP_667338.3:p.Ser839Ter
NM_001166136.2:c.2276_2277delinsAG	NP_001159608.1:p.Ser759Ter