Canonical Allele Identifier: CA2834917

Gene: EVC2

Linked Data

• dbSNP Id: rs776049384
• ExAC: 4:5630307 T / A
• gnomAD v2: 4-5630307-T-A
• gnomAD v3: 4-5628580-T-A
• gnomAD v4: 4-5628580-T-A
• MyVariant Identifiers: chr4:g.5630307T>A (hg19) ; chr4:g.5628580T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628580T>A , CM000666.2:g.5628580T>A	GRCh38
NC_000004.11:g.5630307T>A , CM000666.1:g.5630307T>A	GRCh37
NC_000004.10:g.5681208T>A	NCBI36
NG_015821.1:g.85969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1865A>T MANE Select	ENSP00000342144.5:p.His622Leu
ENST00000310917.6:c.1625A>T	ENSP00000311683.2:p.His542Leu
ENST00000344408.9:c.1865A>T	ENSP00000342144.5:p.His622Leu
ENST00000475313.5:c.1625A>T	ENSP00000431981.1:p.His542Leu
ENST00000509670.1:c.*258A>T	ENSP00000423876.1:n.*258A>T
NM_001166136.1:c.1625A>T	NP_001159608.1:p.His542Leu
NM_147127.4:c.1865A>T	NP_667338.3:p.His622Leu
XM_011513392.1:c.1874A>T	XP_011511694.1:p.His625Leu
XM_011513393.1:c.1874A>T	XP_011511695.1:p.His625Leu
XM_011513394.1:c.1634A>T	XP_011511696.1:p.His545Leu
XM_017007736.1:c.1625A>T	XP_016863225.1:p.His542Leu
XM_017007737.1:c.1625A>T	XP_016863226.1:p.His542Leu
XM_017007738.1:c.1865A>T	XP_016863227.1:p.His622Leu
XM_017007739.1:c.185A>T	XP_016863228.1:p.His62Leu
XM_024453893.1:c.185A>T	XP_024309661.1:p.His62Leu
XR_001741141.1:n.1930A>T
NM_147127.5:c.1865A>T MANE Select	NP_667338.3:p.His622Leu
NM_001166136.2:c.1625A>T	NP_001159608.1:p.His542Leu