Canonical Allele Identifier: CA91712370

Gene: EVC2

Linked Data

• dbSNP Id: rs1044253878
• MyVariant Identifiers: chr4:g.5630352G>A (hg19) ; chr4:g.5628625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628625G>A , CM000666.2:g.5628625G>A	GRCh38
NC_000004.11:g.5630352G>A , CM000666.1:g.5630352G>A	GRCh37
NC_000004.10:g.5681253G>A	NCBI36
NG_015821.1:g.85924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1820C>T MANE Select	ENSP00000342144.5:p.Thr607Ile
ENST00000310917.6:c.1580C>T	ENSP00000311683.2:p.Thr527Ile
ENST00000344408.9:c.1820C>T	ENSP00000342144.5:p.Thr607Ile
ENST00000475313.5:c.1580C>T	ENSP00000431981.1:p.Thr527Ile
ENST00000509670.1:c.*213C>T	ENSP00000423876.1:n.*213C>T
NM_001166136.1:c.1580C>T	NP_001159608.1:p.Thr527Ile
NM_147127.4:c.1820C>T	NP_667338.3:p.Thr607Ile
XM_011513392.1:c.1829C>T	XP_011511694.1:p.Thr610Ile
XM_011513393.1:c.1829C>T	XP_011511695.1:p.Thr610Ile
XM_011513394.1:c.1589C>T	XP_011511696.1:p.Thr530Ile
XM_017007736.1:c.1580C>T	XP_016863225.1:p.Thr527Ile
XM_017007737.1:c.1580C>T	XP_016863226.1:p.Thr527Ile
XM_017007738.1:c.1820C>T	XP_016863227.1:p.Thr607Ile
XM_017007739.1:c.140C>T	XP_016863228.1:p.Thr47Ile
XM_024453893.1:c.140C>T	XP_024309661.1:p.Thr47Ile
XR_001741141.1:n.1885C>T
NM_147127.5:c.1820C>T MANE Select	NP_667338.3:p.Thr607Ile
NM_001166136.2:c.1580C>T	NP_001159608.1:p.Thr527Ile