Canonical Allele Identifier: CA356147407

Gene: EVC2

Linked Data

• ClinVar Variation Id: 931406
• ClinVar RCV Id: RCV001197932
• dbSNP Id: rs186197620
• gnomAD v4: 4-5628563-C-A
• MyVariant Identifiers: chr4:g.5630290C>A (hg19) ; chr4:g.5628563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628563C>A , CM000666.2:g.5628563C>A	GRCh38
NC_000004.11:g.5630290C>A , CM000666.1:g.5630290C>A	GRCh37
NC_000004.10:g.5681191C>A	NCBI36
NG_015821.1:g.85986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1882G>T MANE Select	ENSP00000342144.5:p.Glu628Ter
ENST00000310917.6:c.1642G>T	ENSP00000311683.2:p.Glu548Ter
ENST00000344408.9:c.1882G>T	ENSP00000342144.5:p.Glu628Ter
ENST00000475313.5:c.1642G>T	ENSP00000431981.1:p.Glu548Ter
ENST00000509670.1:c.*275G>T	ENSP00000423876.1:n.*275G>T
NM_001166136.1:c.1642G>T	NP_001159608.1:p.Glu548Ter
NM_147127.4:c.1882G>T	NP_667338.3:p.Glu628Ter
XM_011513392.1:c.1891G>T	XP_011511694.1:p.Glu631Ter
XM_011513393.1:c.1891G>T	XP_011511695.1:p.Glu631Ter
XM_011513394.1:c.1651G>T	XP_011511696.1:p.Glu551Ter
XM_017007736.1:c.1642G>T	XP_016863225.1:p.Glu548Ter
XM_017007737.1:c.1642G>T	XP_016863226.1:p.Glu548Ter
XM_017007738.1:c.1882G>T	XP_016863227.1:p.Glu628Ter
XM_017007739.1:c.202G>T	XP_016863228.1:p.Glu68Ter
XM_024453893.1:c.202G>T	XP_024309661.1:p.Glu68Ter
XR_001741141.1:n.1947G>T
NM_147127.5:c.1882G>T MANE Select	NP_667338.3:p.Glu628Ter
NM_001166136.2:c.1642G>T	NP_001159608.1:p.Glu548Ter