Canonical Allele Identifier: CA2834938

Gene: EVC2

Linked Data

• dbSNP Id: rs770398555
• ExAC: 4:5630397 A / C
• gnomAD v2: 4-5630397-A-C
• gnomAD v4: 4-5628670-A-C
• MyVariant Identifiers: chr4:g.5630397A>C (hg19) ; chr4:g.5628670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628670A>C , CM000666.2:g.5628670A>C	GRCh38
NC_000004.11:g.5630397A>C , CM000666.1:g.5630397A>C	GRCh37
NC_000004.10:g.5681298A>C	NCBI36
NG_015821.1:g.85879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1775T>G MANE Select	ENSP00000342144.5:p.Phe592Cys
ENST00000310917.6:c.1535T>G	ENSP00000311683.2:p.Phe512Cys
ENST00000344408.9:c.1775T>G	ENSP00000342144.5:p.Phe592Cys
ENST00000475313.5:c.1535T>G	ENSP00000431981.1:p.Phe512Cys
ENST00000509670.1:c.*168T>G	ENSP00000423876.1:n.*168T>G
NM_001166136.1:c.1535T>G	NP_001159608.1:p.Phe512Cys
NM_147127.4:c.1775T>G	NP_667338.3:p.Phe592Cys
XM_011513392.1:c.1784T>G	XP_011511694.1:p.Phe595Cys
XM_011513393.1:c.1784T>G	XP_011511695.1:p.Phe595Cys
XM_011513394.1:c.1544T>G	XP_011511696.1:p.Phe515Cys
XM_017007736.1:c.1535T>G	XP_016863225.1:p.Phe512Cys
XM_017007737.1:c.1535T>G	XP_016863226.1:p.Phe512Cys
XM_017007738.1:c.1775T>G	XP_016863227.1:p.Phe592Cys
XM_017007739.1:c.95T>G	XP_016863228.1:p.Phe32Cys
XM_024453893.1:c.95T>G	XP_024309661.1:p.Phe32Cys
XR_001741141.1:n.1840T>G
NM_147127.5:c.1775T>G MANE Select	NP_667338.3:p.Phe592Cys
NM_001166136.2:c.1535T>G	NP_001159608.1:p.Phe512Cys