Canonical Allele Identifier: CA356143580

Gene: EVC2

Linked Data

• dbSNP Id: rs1242760301
• gnomAD v2: 4-5620362-C-T
• gnomAD v4: 4-5618635-C-T
• COSMIC: COSM228385
• MyVariant Identifiers: chr4:g.5620362C>T (hg19) ; chr4:g.5618635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618635C>T , CM000666.2:g.5618635C>T	GRCh38
NC_000004.11:g.5620362C>T , CM000666.1:g.5620362C>T	GRCh37
NC_000004.10:g.5671263C>T	NCBI36
NG_015821.1:g.95914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2549G>A MANE Select	ENSP00000342144.5:p.Arg850Lys
ENST00000310917.6:c.2309G>A	ENSP00000311683.2:p.Arg770Lys
ENST00000344408.9:c.2549G>A	ENSP00000342144.5:p.Arg850Lys
ENST00000475313.5:c.2309G>A	ENSP00000431981.1:p.Arg770Lys
ENST00000509670.1:c.*942G>A	ENSP00000423876.1:n.*942G>A
NM_001166136.1:c.2309G>A	NP_001159608.1:p.Arg770Lys
NM_147127.4:c.2549G>A	NP_667338.3:p.Arg850Lys
XM_011513392.1:c.2558G>A	XP_011511694.1:p.Arg853Lys
XM_011513393.1:c.2558G>A	XP_011511695.1:p.Arg853Lys
XM_011513394.1:c.2318G>A	XP_011511696.1:p.Arg773Lys
XM_017007736.1:c.2309G>A	XP_016863225.1:p.Arg770Lys
XM_017007737.1:c.2309G>A	XP_016863226.1:p.Arg770Lys
XM_017007738.1:c.2549G>A	XP_016863227.1:p.Arg850Lys
XM_017007739.1:c.869G>A	XP_016863228.1:p.Arg290Lys
XM_024453893.1:c.869G>A	XP_024309661.1:p.Arg290Lys
XR_001741141.1:n.2614G>A
NM_147127.5:c.2549G>A MANE Select	NP_667338.3:p.Arg850Lys
NM_001166136.2:c.2309G>A	NP_001159608.1:p.Arg770Lys