Canonical Allele Identifier: CA2834916

Gene: EVC2

Linked Data

• dbSNP Id: rs557920458
• ExAC: 4:5630303 G / T
• gnomAD v2: 4-5630303-G-T
• gnomAD v3: 4-5628576-G-T
• gnomAD v4: 4-5628576-G-T
• MyVariant Identifiers: chr4:g.5630303G>T (hg19) ; chr4:g.5628576G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628576G>T , CM000666.2:g.5628576G>T	GRCh38
NC_000004.11:g.5630303G>T , CM000666.1:g.5630303G>T	GRCh37
NC_000004.10:g.5681204G>T	NCBI36
NG_015821.1:g.85973C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1869C>A MANE Select	ENSP00000342144.5:p.Leu623=
ENST00000310917.6:c.1629C>A	ENSP00000311683.2:p.Leu543=
ENST00000344408.9:c.1869C>A	ENSP00000342144.5:p.Leu623=
ENST00000475313.5:c.1629C>A	ENSP00000431981.1:p.Leu543=
ENST00000509670.1:c.*262C>A	ENSP00000423876.1:n.*262C>A
NM_001166136.1:c.1629C>A	NP_001159608.1:p.Leu543=
NM_147127.4:c.1869C>A	NP_667338.3:p.Leu623=
XM_011513392.1:c.1878C>A	XP_011511694.1:p.Leu626=
XM_011513393.1:c.1878C>A	XP_011511695.1:p.Leu626=
XM_011513394.1:c.1638C>A	XP_011511696.1:p.Leu546=
XM_017007736.1:c.1629C>A	XP_016863225.1:p.Leu543=
XM_017007737.1:c.1629C>A	XP_016863226.1:p.Leu543=
XM_017007738.1:c.1869C>A	XP_016863227.1:p.Leu623=
XM_017007739.1:c.189C>A	XP_016863228.1:p.Leu63=
XM_024453893.1:c.189C>A	XP_024309661.1:p.Leu63=
XR_001741141.1:n.1934C>A
NM_147127.5:c.1869C>A MANE Select	NP_667338.3:p.Leu623=
NM_001166136.2:c.1629C>A	NP_001159608.1:p.Leu543=