Canonical Allele Identifier: CA356147867

Gene: EVC2

Linked Data

• ClinVar Variation Id: 862757
• ClinVar RCV Id: RCV001069543 ; RCV002554582
• dbSNP Id: rs1222356750
• gnomAD v2: 4-5630425-T-A
• gnomAD v3: 4-5628698-T-A
• gnomAD v4: 4-5628698-T-A
• MyVariant Identifiers: chr4:g.5630425T>A (hg19) ; chr4:g.5628698T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628698T>A , CM000666.2:g.5628698T>A	GRCh38
NC_000004.11:g.5630425T>A , CM000666.1:g.5630425T>A	GRCh37
NC_000004.10:g.5681326T>A	NCBI36
NG_015821.1:g.85851A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1747A>T MANE Select	ENSP00000342144.5:p.Ser583Cys
ENST00000310917.6:c.1507A>T	ENSP00000311683.2:p.Ser503Cys
ENST00000344408.9:c.1747A>T	ENSP00000342144.5:p.Ser583Cys
ENST00000475313.5:c.1507A>T	ENSP00000431981.1:p.Ser503Cys
ENST00000509670.1:c.*140A>T	ENSP00000423876.1:n.*140A>T
NM_001166136.1:c.1507A>T	NP_001159608.1:p.Ser503Cys
NM_147127.4:c.1747A>T	NP_667338.3:p.Ser583Cys
XM_011513392.1:c.1756A>T	XP_011511694.1:p.Ser586Cys
XM_011513393.1:c.1756A>T	XP_011511695.1:p.Ser586Cys
XM_011513394.1:c.1516A>T	XP_011511696.1:p.Ser506Cys
XM_017007736.1:c.1507A>T	XP_016863225.1:p.Ser503Cys
XM_017007737.1:c.1507A>T	XP_016863226.1:p.Ser503Cys
XM_017007738.1:c.1747A>T	XP_016863227.1:p.Ser583Cys
XM_017007739.1:c.67A>T	XP_016863228.1:p.Ser23Cys
XM_024453893.1:c.67A>T	XP_024309661.1:p.Ser23Cys
XR_001741141.1:n.1812A>T
NM_147127.5:c.1747A>T MANE Select	NP_667338.3:p.Ser583Cys
NM_001166136.2:c.1507A>T	NP_001159608.1:p.Ser503Cys