Canonical Allele Identifier: CA356147561

Gene: EVC2

Linked Data

• gnomAD v4: 4-5628604-C-A
• COSMIC: COSM734127 ; COSM4859598
• MyVariant Identifiers: chr4:g.5630331C>A (hg19) ; chr4:g.5628604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628604C>A , CM000666.2:g.5628604C>A	GRCh38
NC_000004.11:g.5630331C>A , CM000666.1:g.5630331C>A	GRCh37
NC_000004.10:g.5681232C>A	NCBI36
NG_015821.1:g.85945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1841G>T MANE Select	ENSP00000342144.5:p.Ser614Ile
ENST00000310917.6:c.1601G>T	ENSP00000311683.2:p.Ser534Ile
ENST00000344408.9:c.1841G>T	ENSP00000342144.5:p.Ser614Ile
ENST00000475313.5:c.1601G>T	ENSP00000431981.1:p.Ser534Ile
ENST00000509670.1:c.*234G>T	ENSP00000423876.1:n.*234G>T
NM_001166136.1:c.1601G>T	NP_001159608.1:p.Ser534Ile
NM_147127.4:c.1841G>T	NP_667338.3:p.Ser614Ile
XM_011513392.1:c.1850G>T	XP_011511694.1:p.Ser617Ile
XM_011513393.1:c.1850G>T	XP_011511695.1:p.Ser617Ile
XM_011513394.1:c.1610G>T	XP_011511696.1:p.Ser537Ile
XM_017007736.1:c.1601G>T	XP_016863225.1:p.Ser534Ile
XM_017007737.1:c.1601G>T	XP_016863226.1:p.Ser534Ile
XM_017007738.1:c.1841G>T	XP_016863227.1:p.Ser614Ile
XM_017007739.1:c.161G>T	XP_016863228.1:p.Ser54Ile
XM_024453893.1:c.161G>T	XP_024309661.1:p.Ser54Ile
XR_001741141.1:n.1906G>T
NM_147127.5:c.1841G>T MANE Select	NP_667338.3:p.Ser614Ile
NM_001166136.2:c.1601G>T	NP_001159608.1:p.Ser534Ile