Canonical Allele Identifier: CA2835466

Gene: EVC2

Linked Data

• ClinVar Variation Id: 349097
• ClinVar RCV Id: RCV000392759 ; RCV001812895 ; RCV004021963
• dbSNP Id: rs202198132
• ExAC: 4:5696066 C / T
• gnomAD v2: 4-5696066-C-T
• gnomAD v3: 4-5694339-C-T
• gnomAD v4: 4-5694339-C-T
• MyVariant Identifiers: chr4:g.5696066C>T (hg19) ; chr4:g.5694339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5694339C>T , CM000666.2:g.5694339C>T	GRCh38
NC_000004.11:g.5696066C>T , CM000666.1:g.5696066C>T	GRCh37
NC_000004.10:g.5746967C>T	NCBI36
NG_015821.1:g.20210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.446G>A MANE Select	ENSP00000342144.5:p.Arg149His
ENST00000310917.6:c.206G>A	ENSP00000311683.2:p.Arg69His
ENST00000344408.9:c.446G>A	ENSP00000342144.5:p.Arg149His
ENST00000475313.5:c.206G>A	ENSP00000431981.1:p.Arg69His
ENST00000509670.1:c.206G>A	ENSP00000423876.1:p.Arg69His
NM_001166136.1:c.206G>A	NP_001159608.1:p.Arg69His
NM_147127.4:c.446G>A	NP_667338.3:p.Arg149His
XM_011513392.1:c.446G>A	XP_011511694.1:p.Arg149His
XM_011513393.1:c.446G>A	XP_011511695.1:p.Arg149His
XM_011513394.1:c.206G>A	XP_011511696.1:p.Arg69His
XM_017007736.1:c.206G>A	XP_016863225.1:p.Arg69His
XM_017007737.1:c.206G>A	XP_016863226.1:p.Arg69His
XM_017007738.1:c.446G>A	XP_016863227.1:p.Arg149His
XM_017007739.1:c.-1227G>A	XP_016863228.1:n.-1227G>A
XM_024453893.1:c.-1331G>A	XP_024309661.1:n.-1331G>A
XR_001741141.1:n.511G>A
NM_147127.5:c.446G>A MANE Select	NP_667338.3:p.Arg149His
NM_001166136.2:c.206G>A	NP_001159608.1:p.Arg69His