Canonical Allele Identifier: CA2834674

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1140400
• ClinVar RCV Id: RCV001477469
• dbSNP Id: rs761816687
• ExAC: 4:5620367 C / T
• gnomAD v2: 4-5620367-C-T
• gnomAD v4: 4-5618640-C-T
• MyVariant Identifiers: chr4:g.5620367C>T (hg19) ; chr4:g.5618640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618640C>T , CM000666.2:g.5618640C>T	GRCh38
NC_000004.11:g.5620367C>T , CM000666.1:g.5620367C>T	GRCh37
NC_000004.10:g.5671268C>T	NCBI36
NG_015821.1:g.95909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2544G>A MANE Select	ENSP00000342144.5:p.Leu848=
ENST00000310917.6:c.2304G>A	ENSP00000311683.2:p.Leu768=
ENST00000344408.9:c.2544G>A	ENSP00000342144.5:p.Leu848=
ENST00000475313.5:c.2304G>A	ENSP00000431981.1:p.Leu768=
ENST00000509670.1:c.*937G>A	ENSP00000423876.1:n.*937G>A
NM_001166136.1:c.2304G>A	NP_001159608.1:p.Leu768=
NM_147127.4:c.2544G>A	NP_667338.3:p.Leu848=
XM_011513392.1:c.2553G>A	XP_011511694.1:p.Leu851=
XM_011513393.1:c.2553G>A	XP_011511695.1:p.Leu851=
XM_011513394.1:c.2313G>A	XP_011511696.1:p.Leu771=
XM_017007736.1:c.2304G>A	XP_016863225.1:p.Leu768=
XM_017007737.1:c.2304G>A	XP_016863226.1:p.Leu768=
XM_017007738.1:c.2544G>A	XP_016863227.1:p.Leu848=
XM_017007739.1:c.864G>A	XP_016863228.1:p.Leu288=
XM_024453893.1:c.864G>A	XP_024309661.1:p.Leu288=
XR_001741141.1:n.2609G>A
NM_147127.5:c.2544G>A MANE Select	NP_667338.3:p.Leu848=
NM_001166136.2:c.2304G>A	NP_001159608.1:p.Leu768=