Canonical Allele Identifier: CA356147736

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1945911
• ClinVar RCV Id: RCV002667418
• dbSNP Id: rs1716305083
• MyVariant Identifiers: chr4:g.5630390G>C (hg19) ; chr4:g.5628663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628663G>C , CM000666.2:g.5628663G>C	GRCh38
NC_000004.11:g.5630390G>C , CM000666.1:g.5630390G>C	GRCh37
NC_000004.10:g.5681291G>C	NCBI36
NG_015821.1:g.85886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1782C>G MANE Select	ENSP00000342144.5:p.His594Gln
ENST00000310917.6:c.1542C>G	ENSP00000311683.2:p.His514Gln
ENST00000344408.9:c.1782C>G	ENSP00000342144.5:p.His594Gln
ENST00000475313.5:c.1542C>G	ENSP00000431981.1:p.His514Gln
ENST00000509670.1:c.*175C>G	ENSP00000423876.1:n.*175C>G
NM_001166136.1:c.1542C>G	NP_001159608.1:p.His514Gln
NM_147127.4:c.1782C>G	NP_667338.3:p.His594Gln
XM_011513392.1:c.1791C>G	XP_011511694.1:p.His597Gln
XM_011513393.1:c.1791C>G	XP_011511695.1:p.His597Gln
XM_011513394.1:c.1551C>G	XP_011511696.1:p.His517Gln
XM_017007736.1:c.1542C>G	XP_016863225.1:p.His514Gln
XM_017007737.1:c.1542C>G	XP_016863226.1:p.His514Gln
XM_017007738.1:c.1782C>G	XP_016863227.1:p.His594Gln
XM_017007739.1:c.102C>G	XP_016863228.1:p.His34Gln
XM_024453893.1:c.102C>G	XP_024309661.1:p.His34Gln
XR_001741141.1:n.1847C>G
NM_147127.5:c.1782C>G MANE Select	NP_667338.3:p.His594Gln
NM_001166136.2:c.1542C>G	NP_001159608.1:p.His514Gln