Canonical Allele Identifier: CA2580070754

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1724585
• ClinVar RCV Id: RCV002309853

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628572_5628573delinsT , CM000666.2:g.5628572_5628573delinsT	GRCh38
NC_000004.11:g.5630299_5630300delinsT , CM000666.1:g.5630299_5630300delinsT	GRCh37
NC_000004.10:g.5681200_5681201delinsT	NCBI36
NG_015821.1:g.85976_85977delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1872_1873delinsA MANE Select	ENSP00000342144.5:p.Gln625ArgfsTer?
ENST00000310917.6:c.1632_1633delinsA	ENSP00000311683.2:p.Gln545ArgfsTer?
ENST00000344408.9:c.1872_1873delinsA	ENSP00000342144.5:p.Gln625ArgfsTer?
ENST00000475313.5:c.1632_1633delinsA	ENSP00000431981.1:p.Gln545ArgfsTer?
ENST00000509670.1:c.*265_*266delinsA	ENSP00000423876.1:n.*265_*266delinsA
NM_001166136.1:c.1632_1633delinsA	NP_001159608.1:p.Gln545ArgfsTer?
NM_147127.4:c.1872_1873delinsA	NP_667338.3:p.Gln625ArgfsTer?
XM_011513392.1:c.1881_1882delinsA	XP_011511694.1:p.Gln628ArgfsTer?
XM_011513393.1:c.1881_1882delinsA	XP_011511695.1:p.Gln628ArgfsTer?
XM_011513394.1:c.1641_1642delinsA	XP_011511696.1:p.Gln548ArgfsTer?
XM_017007736.1:c.1632_1633delinsA	XP_016863225.1:p.Gln545ArgfsTer?
XM_017007737.1:c.1632_1633delinsA	XP_016863226.1:p.Gln545ArgfsTer?
XM_017007738.1:c.1872_1873delinsA	XP_016863227.1:p.Gln625ArgfsTer?
XM_017007739.1:c.192_193delinsA	XP_016863228.1:p.Gln65ArgfsTer?
XM_024453893.1:c.192_193delinsA	XP_024309661.1:p.Gln65ArgfsTer?
XR_001741141.1:n.1937_1938delinsA
NM_147127.5:c.1872_1873delinsA MANE Select	NP_667338.3:p.Gln625ArgfsTer?
NM_001166136.2:c.1632_1633delinsA	NP_001159608.1:p.Gln545ArgfsTer?