Canonical Allele Identifier: CA356143654

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1442791
• ClinVar RCV Id: RCV001953170
• dbSNP Id: rs2108833529
• gnomAD v4: 4-5618666-C-T
• MyVariant Identifiers: chr4:g.5620393C>T (hg19) ; chr4:g.5618666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618666C>T , CM000666.2:g.5618666C>T	GRCh38
NC_000004.11:g.5620393C>T , CM000666.1:g.5620393C>T	GRCh37
NC_000004.10:g.5671294C>T	NCBI36
NG_015821.1:g.95883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2518G>A MANE Select	ENSP00000342144.5:p.Val840Ile
ENST00000310917.6:c.2278G>A	ENSP00000311683.2:p.Val760Ile
ENST00000344408.9:c.2518G>A	ENSP00000342144.5:p.Val840Ile
ENST00000475313.5:c.2278G>A	ENSP00000431981.1:p.Val760Ile
ENST00000509670.1:c.*911G>A	ENSP00000423876.1:n.*911G>A
NM_001166136.1:c.2278G>A	NP_001159608.1:p.Val760Ile
NM_147127.4:c.2518G>A	NP_667338.3:p.Val840Ile
XM_011513392.1:c.2527G>A	XP_011511694.1:p.Val843Ile
XM_011513393.1:c.2527G>A	XP_011511695.1:p.Val843Ile
XM_011513394.1:c.2287G>A	XP_011511696.1:p.Val763Ile
XM_017007736.1:c.2278G>A	XP_016863225.1:p.Val760Ile
XM_017007737.1:c.2278G>A	XP_016863226.1:p.Val760Ile
XM_017007738.1:c.2518G>A	XP_016863227.1:p.Val840Ile
XM_017007739.1:c.838G>A	XP_016863228.1:p.Val280Ile
XM_024453893.1:c.838G>A	XP_024309661.1:p.Val280Ile
XR_001741141.1:n.2583G>A
NM_147127.5:c.2518G>A MANE Select	NP_667338.3:p.Val840Ile
NM_001166136.2:c.2278G>A	NP_001159608.1:p.Val760Ile