Canonical Allele Identifier: CA438203011
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5562914A>G , CM000666.2:g.5562914A>G GRCh38
NC_000004.11:g.5564641A>G , CM000666.1:g.5564641A>G GRCh37
NC_000004.10:g.5615542A>G NCBI36
NG_015821.1:g.151635T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.3861T>C MANE Select ENSP00000342144.5:p.Val1287=
ENST00000310917.6:c.3621T>C ENSP00000311683.2:p.Val1207=
ENST00000344408.9:c.3861T>C ENSP00000342144.5:p.Val1287=
ENST00000475313.5:c.3419+2344T>C ENSP00000431981.1:n.3419+2344T>C
ENST00000509670.1:c.*2254T>C ENSP00000423876.1:n.*2254T>C
NM_001166136.1:c.3621T>C NP_001159608.1:p.Val1207=
NM_147127.4:c.3861T>C NP_667338.3:p.Val1287=
XM_011513392.1:c.3870T>C XP_011511694.1:p.Val1290=
XM_011513393.1:c.3668+2344T>C XP_011511695.1:n.3668+2344T>C
XM_011513394.1:c.3630T>C XP_011511696.1:p.Val1210=
XM_017007736.1:c.3621T>C XP_016863225.1:p.Val1207=
XM_017007737.1:c.3621T>C XP_016863226.1:p.Val1207=
XM_017007739.1:c.2181T>C XP_016863228.1:p.Val727=
XM_024453893.1:c.2181T>C XP_024309661.1:p.Val727=
XR_001741141.1:n.3711T>C
NM_147127.5:c.3861T>C MANE Select NP_667338.3:p.Val1287=
NM_001166136.2:c.3621T>C NP_001159608.1:p.Val1207=