Canonical Allele Identifier: CA356143192

Gene: EVC2

Linked Data

• dbSNP Id: rs1715439818
• gnomAD v3: 4-5618539-G-A
• gnomAD v4: 4-5618539-G-A
• MyVariant Identifiers: chr4:g.5620266G>A (hg19) ; chr4:g.5618539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618539G>A , CM000666.2:g.5618539G>A	GRCh38
NC_000004.11:g.5620266G>A , CM000666.1:g.5620266G>A	GRCh37
NC_000004.10:g.5671167G>A	NCBI36
NG_015821.1:g.96010C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2645C>T MANE Select	ENSP00000342144.5:p.Thr882Ile
ENST00000310917.6:c.2405C>T	ENSP00000311683.2:p.Thr802Ile
ENST00000344408.9:c.2645C>T	ENSP00000342144.5:p.Thr882Ile
ENST00000475313.5:c.2405C>T	ENSP00000431981.1:p.Thr802Ile
ENST00000509670.1:c.*1038C>T	ENSP00000423876.1:n.*1038C>T
NM_001166136.1:c.2405C>T	NP_001159608.1:p.Thr802Ile
NM_147127.4:c.2645C>T	NP_667338.3:p.Thr882Ile
XM_011513392.1:c.2654C>T	XP_011511694.1:p.Thr885Ile
XM_011513393.1:c.2654C>T	XP_011511695.1:p.Thr885Ile
XM_011513394.1:c.2414C>T	XP_011511696.1:p.Thr805Ile
XM_017007736.1:c.2405C>T	XP_016863225.1:p.Thr802Ile
XM_017007737.1:c.2405C>T	XP_016863226.1:p.Thr802Ile
XM_017007738.1:c.2645C>T	XP_016863227.1:p.Thr882Ile
XM_017007739.1:c.965C>T	XP_016863228.1:p.Thr322Ile
XM_024453893.1:c.965C>T	XP_024309661.1:p.Thr322Ile
XR_001741141.1:n.2710C>T
NM_147127.5:c.2645C>T MANE Select	NP_667338.3:p.Thr882Ile
NM_001166136.2:c.2405C>T	NP_001159608.1:p.Thr802Ile