Canonical Allele Identifier: CA356147495

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5630310G>A (hg19) ; chr4:g.5628583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628583G>A , CM000666.2:g.5628583G>A	GRCh38
NC_000004.11:g.5630310G>A , CM000666.1:g.5630310G>A	GRCh37
NC_000004.10:g.5681211G>A	NCBI36
NG_015821.1:g.85966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1862C>T MANE Select	ENSP00000342144.5:p.Thr621Ile
ENST00000310917.6:c.1622C>T	ENSP00000311683.2:p.Thr541Ile
ENST00000344408.9:c.1862C>T	ENSP00000342144.5:p.Thr621Ile
ENST00000475313.5:c.1622C>T	ENSP00000431981.1:p.Thr541Ile
ENST00000509670.1:c.*255C>T	ENSP00000423876.1:n.*255C>T
NM_001166136.1:c.1622C>T	NP_001159608.1:p.Thr541Ile
NM_147127.4:c.1862C>T	NP_667338.3:p.Thr621Ile
XM_011513392.1:c.1871C>T	XP_011511694.1:p.Thr624Ile
XM_011513393.1:c.1871C>T	XP_011511695.1:p.Thr624Ile
XM_011513394.1:c.1631C>T	XP_011511696.1:p.Thr544Ile
XM_017007736.1:c.1622C>T	XP_016863225.1:p.Thr541Ile
XM_017007737.1:c.1622C>T	XP_016863226.1:p.Thr541Ile
XM_017007738.1:c.1862C>T	XP_016863227.1:p.Thr621Ile
XM_017007739.1:c.182C>T	XP_016863228.1:p.Thr61Ile
XM_024453893.1:c.182C>T	XP_024309661.1:p.Thr61Ile
XR_001741141.1:n.1927C>T
NM_147127.5:c.1862C>T MANE Select	NP_667338.3:p.Thr621Ile
NM_001166136.2:c.1622C>T	NP_001159608.1:p.Thr541Ile