Canonical Allele Identifier: CA438203805
Gene: EVC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.5620265A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618538A>G , CM000666.2:g.5618538A>G GRCh38
NC_000004.11:g.5620265A>G , CM000666.1:g.5620265A>G GRCh37
NC_000004.10:g.5671166A>G NCBI36
NG_015821.1:g.96011T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344408.10:c.2646T>C MANE Select ENSP00000342144.5:p.Thr882=
ENST00000310917.6:c.2406T>C ENSP00000311683.2:p.Thr802=
ENST00000344408.9:c.2646T>C ENSP00000342144.5:p.Thr882=
ENST00000475313.5:c.2406T>C ENSP00000431981.1:p.Thr802=
ENST00000509670.1:c.*1039T>C ENSP00000423876.1:n.*1039T>C
NM_001166136.1:c.2406T>C NP_001159608.1:p.Thr802=
NM_147127.4:c.2646T>C NP_667338.3:p.Thr882=
XM_011513392.1:c.2655T>C XP_011511694.1:p.Thr885=
XM_011513393.1:c.2655T>C XP_011511695.1:p.Thr885=
XM_011513394.1:c.2415T>C XP_011511696.1:p.Thr805=
XM_017007736.1:c.2406T>C XP_016863225.1:p.Thr802=
XM_017007737.1:c.2406T>C XP_016863226.1:p.Thr802=
XM_017007738.1:c.2646T>C XP_016863227.1:p.Thr882=
XM_017007739.1:c.966T>C XP_016863228.1:p.Thr322=
XM_024453893.1:c.966T>C XP_024309661.1:p.Thr322=
XR_001741141.1:n.2711T>C
NM_147127.5:c.2646T>C MANE Select NP_667338.3:p.Thr882=
NM_001166136.2:c.2406T>C NP_001159608.1:p.Thr802=