Canonical Allele Identifier: CA356143598

Gene: EVC2

Linked Data

• ClinVar Variation Id: 845073
• ClinVar RCV Id: RCV001048066
• dbSNP Id: rs1715453232
• gnomAD v3: 4-5618645-C-A
• gnomAD v4: 4-5618645-C-A
• MyVariant Identifiers: chr4:g.5620372C>A (hg19) ; chr4:g.5618645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618645C>A , CM000666.2:g.5618645C>A	GRCh38
NC_000004.11:g.5620372C>A , CM000666.1:g.5620372C>A	GRCh37
NC_000004.10:g.5671273C>A	NCBI36
NG_015821.1:g.95904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2539G>T MANE Select	ENSP00000342144.5:p.Glu847Ter
ENST00000310917.6:c.2299G>T	ENSP00000311683.2:p.Glu767Ter
ENST00000344408.9:c.2539G>T	ENSP00000342144.5:p.Glu847Ter
ENST00000475313.5:c.2299G>T	ENSP00000431981.1:p.Glu767Ter
ENST00000509670.1:c.*932G>T	ENSP00000423876.1:n.*932G>T
NM_001166136.1:c.2299G>T	NP_001159608.1:p.Glu767Ter
NM_147127.4:c.2539G>T	NP_667338.3:p.Glu847Ter
XM_011513392.1:c.2548G>T	XP_011511694.1:p.Glu850Ter
XM_011513393.1:c.2548G>T	XP_011511695.1:p.Glu850Ter
XM_011513394.1:c.2308G>T	XP_011511696.1:p.Glu770Ter
XM_017007736.1:c.2299G>T	XP_016863225.1:p.Glu767Ter
XM_017007737.1:c.2299G>T	XP_016863226.1:p.Glu767Ter
XM_017007738.1:c.2539G>T	XP_016863227.1:p.Glu847Ter
XM_017007739.1:c.859G>T	XP_016863228.1:p.Glu287Ter
XM_024453893.1:c.859G>T	XP_024309661.1:p.Glu287Ter
XR_001741141.1:n.2604G>T
NM_147127.5:c.2539G>T MANE Select	NP_667338.3:p.Glu847Ter
NM_001166136.2:c.2299G>T	NP_001159608.1:p.Glu767Ter