Canonical Allele Identifier: CA116177

Gene: EVC2

Linked Data

• ClinVar Variation Id: 3388
• ClinVar RCV Id: RCV000003555
• dbSNP Id: rs587776568
• MyVariant Identifiers: chr4:g.5564709del (hg19) ; chr4:g.5562982del (hg38)
• PubMed: PMID:16404586 ; PMID:19810119 ; PMID:23220543

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562982del , CM000666.2:g.5562982del	GRCh38
NC_000004.11:g.5564709del , CM000666.1:g.5564709del	GRCh37
NC_000004.10:g.5615610del	NCBI36
NG_015821.1:g.151567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3793del MANE Select	ENSP00000342144.5:p.Leu1265TyrfsTer2
ENST00000310917.6:c.3553del	ENSP00000311683.2:p.Leu1185TyrfsTer2
ENST00000344408.9:c.3793del	ENSP00000342144.5:p.Leu1265TyrfsTer2
ENST00000475313.5:c.3419+2276del	ENSP00000431981.1:n.3419+2276del
ENST00000509670.1:c.*2186del	ENSP00000423876.1:n.*2186del
NM_001166136.1:c.3553del	NP_001159608.1:p.Leu1185TyrfsTer2
NM_147127.4:c.3793del	NP_667338.3:p.Leu1265TyrfsTer2
XM_011513392.1:c.3802del	XP_011511694.1:p.Leu1268TyrfsTer2
XM_011513393.1:c.3668+2276del	XP_011511695.1:n.3668+2276del
XM_011513394.1:c.3562del	XP_011511696.1:p.Leu1188TyrfsTer2
XM_017007736.1:c.3553del	XP_016863225.1:p.Leu1185TyrfsTer2
XM_017007737.1:c.3553del	XP_016863226.1:p.Leu1185TyrfsTer2
XM_017007739.1:c.2113del	XP_016863228.1:p.Leu705TyrfsTer2
XM_024453893.1:c.2113del	XP_024309661.1:p.Leu705TyrfsTer2
XR_001741141.1:n.3643del
NM_147127.5:c.3793del MANE Select	NP_667338.3:p.Leu1265TyrfsTer2
NM_001166136.2:c.3553del	NP_001159608.1:p.Leu1185TyrfsTer2