Canonical Allele Identifier: CA356147491
Gene: EVC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628581G>C , CM000666.2:g.5628581G>C GRCh38
NC_000004.11:g.5630308G>C , CM000666.1:g.5630308G>C GRCh37
NC_000004.10:g.5681209G>C NCBI36
NG_015821.1:g.85968C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1864C>G MANE Select ENSP00000342144.5:p.His622Asp
ENST00000310917.6:c.1624C>G ENSP00000311683.2:p.His542Asp
ENST00000344408.9:c.1864C>G ENSP00000342144.5:p.His622Asp
ENST00000475313.5:c.1624C>G ENSP00000431981.1:p.His542Asp
ENST00000509670.1:c.*257C>G ENSP00000423876.1:n.*257C>G
NM_001166136.1:c.1624C>G NP_001159608.1:p.His542Asp
NM_147127.4:c.1864C>G NP_667338.3:p.His622Asp
XM_011513392.1:c.1873C>G XP_011511694.1:p.His625Asp
XM_011513393.1:c.1873C>G XP_011511695.1:p.His625Asp
XM_011513394.1:c.1633C>G XP_011511696.1:p.His545Asp
XM_017007736.1:c.1624C>G XP_016863225.1:p.His542Asp
XM_017007737.1:c.1624C>G XP_016863226.1:p.His542Asp
XM_017007738.1:c.1864C>G XP_016863227.1:p.His622Asp
XM_017007739.1:c.184C>G XP_016863228.1:p.His62Asp
XM_024453893.1:c.184C>G XP_024309661.1:p.His62Asp
XR_001741141.1:n.1929C>G
NM_147127.5:c.1864C>G MANE Select NP_667338.3:p.His622Asp
NM_001166136.2:c.1624C>G NP_001159608.1:p.His542Asp