Canonical Allele Identifier: CA2580070755

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1724290
• ClinVar RCV Id: RCV002309558

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628593delinsAAAGA , CM000666.2:g.5628593delinsAAAGA	GRCh38
NC_000004.11:g.5630320delinsAAAGA , CM000666.1:g.5630320delinsAAAGA	GRCh37
NC_000004.10:g.5681221delinsAAAGA	NCBI36
NG_015821.1:g.85956delinsTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1852delinsTCTTT MANE Select	ENSP00000342144.5:p.Ala618SerfsTer19
ENST00000310917.6:c.1612delinsTCTTT	ENSP00000311683.2:p.Ala538SerfsTer19
ENST00000344408.9:c.1852delinsTCTTT	ENSP00000342144.5:p.Ala618SerfsTer19
ENST00000475313.5:c.1612delinsTCTTT	ENSP00000431981.1:p.Ala538SerfsTer19
ENST00000509670.1:c.*245delinsTCTTT	ENSP00000423876.1:n.*245delinsTCTTT
NM_001166136.1:c.1612delinsTCTTT	NP_001159608.1:p.Ala538SerfsTer19
NM_147127.4:c.1852delinsTCTTT	NP_667338.3:p.Ala618SerfsTer19
XM_011513392.1:c.1861delinsTCTTT	XP_011511694.1:p.Ala621SerfsTer19
XM_011513393.1:c.1861delinsTCTTT	XP_011511695.1:p.Ala621SerfsTer19
XM_011513394.1:c.1621delinsTCTTT	XP_011511696.1:p.Ala541SerfsTer19
XM_017007736.1:c.1612delinsTCTTT	XP_016863225.1:p.Ala538SerfsTer19
XM_017007737.1:c.1612delinsTCTTT	XP_016863226.1:p.Ala538SerfsTer19
XM_017007738.1:c.1852delinsTCTTT	XP_016863227.1:p.Ala618SerfsTer19
XM_017007739.1:c.172delinsTCTTT	XP_016863228.1:p.Ala58SerfsTer19
XM_024453893.1:c.172delinsTCTTT	XP_024309661.1:p.Ala58SerfsTer19
XR_001741141.1:n.1917delinsTCTTT
NM_147127.5:c.1852delinsTCTTT MANE Select	NP_667338.3:p.Ala618SerfsTer19
NM_001166136.2:c.1612delinsTCTTT	NP_001159608.1:p.Ala538SerfsTer19