Canonical Allele Identifier: CA2834978

Gene: EVC2

Linked Data

• ClinVar Variation Id: 446664
• ClinVar RCV Id: RCV000515819 ; RCV000516102 ; RCV000666197 ; RCV001245243 ; RCV001574376
• dbSNP Id: rs769864196
• ExAC: 4:5633522 G / A
• gnomAD v2: 4-5633522-G-A
• gnomAD v3: 4-5631795-G-A
• gnomAD v4: 4-5631795-G-A
• MyVariant Identifiers: chr4:g.5633522G>A (hg19) ; chr4:g.5631795G>A (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5631795G>A , CM000666.2:g.5631795G>A	GRCh38
NC_000004.11:g.5633522G>A , CM000666.1:g.5633522G>A	GRCh37
NC_000004.10:g.5684423G>A	NCBI36
NG_015821.1:g.82754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1708C>T MANE Select	ENSP00000342144.5:p.Gln570Ter
ENST00000310917.6:c.1468C>T	ENSP00000311683.2:p.Gln490Ter
ENST00000344408.9:c.1708C>T	ENSP00000342144.5:p.Gln570Ter
ENST00000475313.5:c.1468C>T	ENSP00000431981.1:p.Gln490Ter
ENST00000509670.1:c.*101C>T	ENSP00000423876.1:n.*101C>T
NM_001166136.1:c.1468C>T	NP_001159608.1:p.Gln490Ter
NM_147127.4:c.1708C>T	NP_667338.3:p.Gln570Ter
XM_011513392.1:c.1717C>T	XP_011511694.1:p.Gln573Ter
XM_011513393.1:c.1717C>T	XP_011511695.1:p.Gln573Ter
XM_011513394.1:c.1477C>T	XP_011511696.1:p.Gln493Ter
XM_017007736.1:c.1468C>T	XP_016863225.1:p.Gln490Ter
XM_017007737.1:c.1468C>T	XP_016863226.1:p.Gln490Ter
XM_017007738.1:c.1708C>T	XP_016863227.1:p.Gln570Ter
XM_017007739.1:c.28C>T	XP_016863228.1:p.Gln10Ter
XM_024453893.1:c.28C>T	XP_024309661.1:p.Gln10Ter
XR_001741141.1:n.1773C>T
NM_147127.5:c.1708C>T MANE Select	NP_667338.3:p.Gln570Ter
NM_001166136.2:c.1468C>T	NP_001159608.1:p.Gln490Ter