Canonical Allele Identifier: CA356147917

Gene: EVC2

Linked Data

• dbSNP Id: rs1354154955
• gnomAD v3: 4-5628719-A-C
• gnomAD v4: 4-5628719-A-C
• MyVariant Identifiers: chr4:g.5630446A>C (hg19) ; chr4:g.5628719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628719A>C , CM000666.2:g.5628719A>C	GRCh38
NC_000004.11:g.5630446A>C , CM000666.1:g.5630446A>C	GRCh37
NC_000004.10:g.5681347A>C	NCBI36
NG_015821.1:g.85830T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1726T>G MANE Select	ENSP00000342144.5:p.Leu576Val
ENST00000310917.6:c.1486T>G	ENSP00000311683.2:p.Leu496Val
ENST00000344408.9:c.1726T>G	ENSP00000342144.5:p.Leu576Val
ENST00000475313.5:c.1486T>G	ENSP00000431981.1:p.Leu496Val
ENST00000509670.1:c.*119T>G	ENSP00000423876.1:n.*119T>G
NM_001166136.1:c.1486T>G	NP_001159608.1:p.Leu496Val
NM_147127.4:c.1726T>G	NP_667338.3:p.Leu576Val
XM_011513392.1:c.1735T>G	XP_011511694.1:p.Leu579Val
XM_011513393.1:c.1735T>G	XP_011511695.1:p.Leu579Val
XM_011513394.1:c.1495T>G	XP_011511696.1:p.Leu499Val
XM_017007736.1:c.1486T>G	XP_016863225.1:p.Leu496Val
XM_017007737.1:c.1486T>G	XP_016863226.1:p.Leu496Val
XM_017007738.1:c.1726T>G	XP_016863227.1:p.Leu576Val
XM_017007739.1:c.46T>G	XP_016863228.1:p.Leu16Val
XM_024453893.1:c.46T>G	XP_024309661.1:p.Leu16Val
XR_001741141.1:n.1791T>G
NM_147127.5:c.1726T>G MANE Select	NP_667338.3:p.Leu576Val
NM_001166136.2:c.1486T>G	NP_001159608.1:p.Leu496Val