Canonical Allele Identifier: CA2834927

Gene: EVC2

Linked Data

• ClinVar Variation Id: 281122
• ClinVar RCV Id: RCV000340148 ; RCV000386025 ; RCV000515816 ; RCV001085529
• dbSNP Id: rs145693546
• ExAC: 4:5630349 C / T
• gnomAD v2: 4-5630349-C-T
• gnomAD v3: 4-5628622-C-T
• gnomAD v4: 4-5628622-C-T
• COSMIC: COSM328137
• MyVariant Identifiers: chr4:g.5630349C>T (hg19) ; chr4:g.5628622C>T (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628622C>T , CM000666.2:g.5628622C>T	GRCh38
NC_000004.11:g.5630349C>T , CM000666.1:g.5630349C>T	GRCh37
NC_000004.10:g.5681250C>T	NCBI36
NG_015821.1:g.85927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1823G>A MANE Select	ENSP00000342144.5:p.Arg608His
ENST00000310917.6:c.1583G>A	ENSP00000311683.2:p.Arg528His
ENST00000344408.9:c.1823G>A	ENSP00000342144.5:p.Arg608His
ENST00000475313.5:c.1583G>A	ENSP00000431981.1:p.Arg528His
ENST00000509670.1:c.*216G>A	ENSP00000423876.1:n.*216G>A
NM_001166136.1:c.1583G>A	NP_001159608.1:p.Arg528His
NM_147127.4:c.1823G>A	NP_667338.3:p.Arg608His
XM_011513392.1:c.1832G>A	XP_011511694.1:p.Arg611His
XM_011513393.1:c.1832G>A	XP_011511695.1:p.Arg611His
XM_011513394.1:c.1592G>A	XP_011511696.1:p.Arg531His
XM_017007736.1:c.1583G>A	XP_016863225.1:p.Arg528His
XM_017007737.1:c.1583G>A	XP_016863226.1:p.Arg528His
XM_017007738.1:c.1823G>A	XP_016863227.1:p.Arg608His
XM_017007739.1:c.143G>A	XP_016863228.1:p.Arg48His
XM_024453893.1:c.143G>A	XP_024309661.1:p.Arg48His
XR_001741141.1:n.1888G>A
NM_147127.5:c.1823G>A MANE Select	NP_667338.3:p.Arg608His
NM_001166136.2:c.1583G>A	NP_001159608.1:p.Arg528His