Canonical Allele Identifier: CA356147507

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1448600
• ClinVar RCV Id: RCV001997174
• dbSNP Id: rs1560177469
• gnomAD v4: 4-5628586-A-T
• MyVariant Identifiers: chr4:g.5630313A>T (hg19) ; chr4:g.5628586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628586A>T , CM000666.2:g.5628586A>T	GRCh38
NC_000004.11:g.5630313A>T , CM000666.1:g.5630313A>T	GRCh37
NC_000004.10:g.5681214A>T	NCBI36
NG_015821.1:g.85963T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1859T>A MANE Select	ENSP00000342144.5:p.Leu620Gln
ENST00000310917.6:c.1619T>A	ENSP00000311683.2:p.Leu540Gln
ENST00000344408.9:c.1859T>A	ENSP00000342144.5:p.Leu620Gln
ENST00000475313.5:c.1619T>A	ENSP00000431981.1:p.Leu540Gln
ENST00000509670.1:c.*252T>A	ENSP00000423876.1:n.*252T>A
NM_001166136.1:c.1619T>A	NP_001159608.1:p.Leu540Gln
NM_147127.4:c.1859T>A	NP_667338.3:p.Leu620Gln
XM_011513392.1:c.1868T>A	XP_011511694.1:p.Leu623Gln
XM_011513393.1:c.1868T>A	XP_011511695.1:p.Leu623Gln
XM_011513394.1:c.1628T>A	XP_011511696.1:p.Leu543Gln
XM_017007736.1:c.1619T>A	XP_016863225.1:p.Leu540Gln
XM_017007737.1:c.1619T>A	XP_016863226.1:p.Leu540Gln
XM_017007738.1:c.1859T>A	XP_016863227.1:p.Leu620Gln
XM_017007739.1:c.179T>A	XP_016863228.1:p.Leu60Gln
XM_024453893.1:c.179T>A	XP_024309661.1:p.Leu60Gln
XR_001741141.1:n.1924T>A
NM_147127.5:c.1859T>A MANE Select	NP_667338.3:p.Leu620Gln
NM_001166136.2:c.1619T>A	NP_001159608.1:p.Leu540Gln