Canonical Allele Identifier: CA2760265352
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618783_5618784insACCTCCCTGAGCTGAGTTTTGTGTGTCTCTCCTCTGTCCAT , CM000666.2:g.5618783_5618784insACCTCCCTGAGCTGAGTTTTGTGTGTCTCTCCTCTGTCCAT GRCh38
NC_000004.11:g.5620510_5620511insACCTCCCTGAGCTGAGTTTTGTGTGTCTCTCCTCTGTCCAT , CM000666.1:g.5620510_5620511insACCTCCCTGAGCTGAGTTTTGTGTGTCTCTCCTCTGTCCAT GRCh37
NC_000004.10:g.5671411_5671412insACCTCCCTGAGCTGAGTTTTGTGTGTCTCTCCTCTGTCCAT NCBI36
NG_015821.1:g.95765_95766insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT MANE Select ENSP00000342144.5:n.2502-102_2502-101insATGGACAGAGGAGAGACACAC...
ENST00000310917.6:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT ENSP00000311683.2:n.2262-102_2262-101insATGGACAGAGGAGAGACACAC...
ENST00000344408.9:c.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT ENSP00000342144.5:n.2502-102_2502-101insATGGACAGAGGAGAGACACAC...
ENST00000475313.5:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT ENSP00000431981.1:n.2262-102_2262-101insATGGACAGAGGAGAGACACAC...
ENST00000509670.1:c.*895-102_*895-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT ENSP00000423876.1:n.*895-102_*895-101insATGGACAGAGGAGAGACACAC...
NM_001166136.1:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT NP_001159608.1:n.2262-102_2262-101insATGGACAGAGGAGAGACACACAAA...
NM_147127.4:c.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT NP_667338.3:n.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACT...
XM_011513392.1:c.2511-102_2511-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_011511694.1:n.2511-102_2511-101insATGGACAGAGGAGAGACACACAAA...
XM_011513393.1:c.2511-102_2511-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_011511695.1:n.2511-102_2511-101insATGGACAGAGGAGAGACACACAAA...
XM_011513394.1:c.2271-102_2271-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_011511696.1:n.2271-102_2271-101insATGGACAGAGGAGAGACACACAAA...
XM_017007736.1:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_016863225.1:n.2262-102_2262-101insATGGACAGAGGAGAGACACACAAA...
XM_017007737.1:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_016863226.1:n.2262-102_2262-101insATGGACAGAGGAGAGACACACAAA...
XM_017007738.1:c.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_016863227.1:n.2502-102_2502-101insATGGACAGAGGAGAGACACACAAA...
XM_017007739.1:c.822-102_822-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_016863228.1:n.822-102_822-101insATGGACAGAGGAGAGACACACAAAAC...
XM_024453893.1:c.822-102_822-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT XP_024309661.1:n.822-102_822-101insATGGACAGAGGAGAGACACACAAAAC...
XR_001741141.1:n.2567-102_2567-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT
NM_147127.5:c.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT MANE Select NP_667338.3:n.2502-102_2502-101insATGGACAGAGGAGAGACACACAAAACT...
NM_001166136.2:c.2262-102_2262-101insATGGACAGAGGAGAGACACACAAAACTCAGCTCAGGGAGGT NP_001159608.1:n.2262-102_2262-101insATGGACAGAGGAGAGACACACAAA...