Canonical Allele Identifier: CA2834665

Gene: EVC2

Linked Data

• dbSNP Id: rs746466937
• ExAC: 4:5620339 A / T
• gnomAD v2: 4-5620339-A-T
• gnomAD v3: 4-5618612-A-T
• gnomAD v4: 4-5618612-A-T
• MyVariant Identifiers: chr4:g.5620339A>T (hg19) ; chr4:g.5618612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618612A>T , CM000666.2:g.5618612A>T	GRCh38
NC_000004.11:g.5620339A>T , CM000666.1:g.5620339A>T	GRCh37
NC_000004.10:g.5671240A>T	NCBI36
NG_015821.1:g.95937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2572T>A MANE Select	ENSP00000342144.5:p.Cys858Ser
ENST00000310917.6:c.2332T>A	ENSP00000311683.2:p.Cys778Ser
ENST00000344408.9:c.2572T>A	ENSP00000342144.5:p.Cys858Ser
ENST00000475313.5:c.2332T>A	ENSP00000431981.1:p.Cys778Ser
ENST00000509670.1:c.*965T>A	ENSP00000423876.1:n.*965T>A
NM_001166136.1:c.2332T>A	NP_001159608.1:p.Cys778Ser
NM_147127.4:c.2572T>A	NP_667338.3:p.Cys858Ser
XM_011513392.1:c.2581T>A	XP_011511694.1:p.Cys861Ser
XM_011513393.1:c.2581T>A	XP_011511695.1:p.Cys861Ser
XM_011513394.1:c.2341T>A	XP_011511696.1:p.Cys781Ser
XM_017007736.1:c.2332T>A	XP_016863225.1:p.Cys778Ser
XM_017007737.1:c.2332T>A	XP_016863226.1:p.Cys778Ser
XM_017007738.1:c.2572T>A	XP_016863227.1:p.Cys858Ser
XM_017007739.1:c.892T>A	XP_016863228.1:p.Cys298Ser
XM_024453893.1:c.892T>A	XP_024309661.1:p.Cys298Ser
XR_001741141.1:n.2637T>A
NM_147127.5:c.2572T>A MANE Select	NP_667338.3:p.Cys858Ser
NM_001166136.2:c.2332T>A	NP_001159608.1:p.Cys778Ser