Canonical Allele Identifier: CA356147479

Gene: EVC2

Linked Data

• dbSNP Id: rs1444755113
• MyVariant Identifiers: chr4:g.5630305G>T (hg19) ; chr4:g.5628578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628578G>T , CM000666.2:g.5628578G>T	GRCh38
NC_000004.11:g.5630305G>T , CM000666.1:g.5630305G>T	GRCh37
NC_000004.10:g.5681206G>T	NCBI36
NG_015821.1:g.85971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1867C>A MANE Select	ENSP00000342144.5:p.Leu623Ile
ENST00000310917.6:c.1627C>A	ENSP00000311683.2:p.Leu543Ile
ENST00000344408.9:c.1867C>A	ENSP00000342144.5:p.Leu623Ile
ENST00000475313.5:c.1627C>A	ENSP00000431981.1:p.Leu543Ile
ENST00000509670.1:c.*260C>A	ENSP00000423876.1:n.*260C>A
NM_001166136.1:c.1627C>A	NP_001159608.1:p.Leu543Ile
NM_147127.4:c.1867C>A	NP_667338.3:p.Leu623Ile
XM_011513392.1:c.1876C>A	XP_011511694.1:p.Leu626Ile
XM_011513393.1:c.1876C>A	XP_011511695.1:p.Leu626Ile
XM_011513394.1:c.1636C>A	XP_011511696.1:p.Leu546Ile
XM_017007736.1:c.1627C>A	XP_016863225.1:p.Leu543Ile
XM_017007737.1:c.1627C>A	XP_016863226.1:p.Leu543Ile
XM_017007738.1:c.1867C>A	XP_016863227.1:p.Leu623Ile
XM_017007739.1:c.187C>A	XP_016863228.1:p.Leu63Ile
XM_024453893.1:c.187C>A	XP_024309661.1:p.Leu63Ile
XR_001741141.1:n.1932C>A
NM_147127.5:c.1867C>A MANE Select	NP_667338.3:p.Leu623Ile
NM_001166136.2:c.1627C>A	NP_001159608.1:p.Leu543Ile