Canonical Allele Identifier: CA2834645

Gene: EVC2

Linked Data

• dbSNP Id: rs771478207
• ExAC: 4:5620288 C / T
• gnomAD v2: 4-5620288-C-T
• gnomAD v4: 4-5618561-C-T
• MyVariant Identifiers: chr4:g.5620288C>T (hg19) ; chr4:g.5618561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618561C>T , CM000666.2:g.5618561C>T	GRCh38
NC_000004.11:g.5620288C>T , CM000666.1:g.5620288C>T	GRCh37
NC_000004.10:g.5671189C>T	NCBI36
NG_015821.1:g.95988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2623G>A MANE Select	ENSP00000342144.5:p.Val875Ile
ENST00000310917.6:c.2383G>A	ENSP00000311683.2:p.Val795Ile
ENST00000344408.9:c.2623G>A	ENSP00000342144.5:p.Val875Ile
ENST00000475313.5:c.2383G>A	ENSP00000431981.1:p.Val795Ile
ENST00000509670.1:c.*1016G>A	ENSP00000423876.1:n.*1016G>A
NM_001166136.1:c.2383G>A	NP_001159608.1:p.Val795Ile
NM_147127.4:c.2623G>A	NP_667338.3:p.Val875Ile
XM_011513392.1:c.2632G>A	XP_011511694.1:p.Val878Ile
XM_011513393.1:c.2632G>A	XP_011511695.1:p.Val878Ile
XM_011513394.1:c.2392G>A	XP_011511696.1:p.Val798Ile
XM_017007736.1:c.2383G>A	XP_016863225.1:p.Val795Ile
XM_017007737.1:c.2383G>A	XP_016863226.1:p.Val795Ile
XM_017007738.1:c.2623G>A	XP_016863227.1:p.Val875Ile
XM_017007739.1:c.943G>A	XP_016863228.1:p.Val315Ile
XM_024453893.1:c.943G>A	XP_024309661.1:p.Val315Ile
XR_001741141.1:n.2688G>A
NM_147127.5:c.2623G>A MANE Select	NP_667338.3:p.Val875Ile
NM_001166136.2:c.2383G>A	NP_001159608.1:p.Val795Ile