Canonical Allele Identifier: CA2834538

Gene: EVC2

Linked Data

• ClinVar Variation Id: 348995
• ClinVar RCV Id: RCV000363469 ; RCV002520248 ; RCV002520247
• dbSNP Id: rs145786485
• ExAC: 4:5586543 C / T
• gnomAD v2: 4-5586543-C-T
• gnomAD v3: 4-5584816-C-T
• gnomAD v4: 4-5584816-C-T
• MyVariant Identifiers: chr4:g.5586543C>T (hg19) ; chr4:g.5584816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5584816C>T , CM000666.2:g.5584816C>T	GRCh38
NC_000004.11:g.5586543C>T , CM000666.1:g.5586543C>T	GRCh37
NC_000004.10:g.5637444C>T	NCBI36
NG_015821.1:g.129733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2864G>A MANE Select	ENSP00000342144.5:p.Arg955Gln
ENST00000310917.6:c.2624G>A	ENSP00000311683.2:p.Arg875Gln
ENST00000344408.9:c.2864G>A	ENSP00000342144.5:p.Arg955Gln
ENST00000475313.5:c.2624G>A	ENSP00000431981.1:p.Arg875Gln
ENST00000509670.1:c.*1257G>A	ENSP00000423876.1:n.*1257G>A
NM_001166136.1:c.2624G>A	NP_001159608.1:p.Arg875Gln
NM_147127.4:c.2864G>A	NP_667338.3:p.Arg955Gln
XM_011513392.1:c.2873G>A	XP_011511694.1:p.Arg958Gln
XM_011513393.1:c.2873G>A	XP_011511695.1:p.Arg958Gln
XM_011513394.1:c.2633G>A	XP_011511696.1:p.Arg878Gln
XM_017007736.1:c.2624G>A	XP_016863225.1:p.Arg875Gln
XM_017007737.1:c.2624G>A	XP_016863226.1:p.Arg875Gln
XM_017007738.1:c.2864G>A	XP_016863227.1:p.Arg955Gln
XM_017007739.1:c.1184G>A	XP_016863228.1:p.Arg395Gln
XM_024453893.1:c.1184G>A	XP_024309661.1:p.Arg395Gln
XR_001741141.1:n.2929G>A
NM_147127.5:c.2864G>A MANE Select	NP_667338.3:p.Arg955Gln
NM_001166136.2:c.2624G>A	NP_001159608.1:p.Arg875Gln