Canonical Allele Identifier: CA2573138254

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1423173
• ClinVar RCV Id: RCV001954726
• dbSNP Id: rs2108847014

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628579_5628588del , CM000666.2:g.5628579_5628588del	GRCh38
NC_000004.11:g.5630306_5630315del , CM000666.1:g.5630306_5630315del	GRCh37
NC_000004.10:g.5681207_5681216del	NCBI36
NG_015821.1:g.85961_85970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1857_1866del MANE Select	ENSP00000342144.5:p.Gln619HisfsTer?
ENST00000310917.6:c.1617_1626del	ENSP00000311683.2:p.Gln539HisfsTer?
ENST00000344408.9:c.1857_1866del	ENSP00000342144.5:p.Gln619HisfsTer?
ENST00000475313.5:c.1617_1626del	ENSP00000431981.1:p.Gln539HisfsTer?
ENST00000509670.1:c.*250_*259del	ENSP00000423876.1:n.*250_*259del
NM_001166136.1:c.1617_1626del	NP_001159608.1:p.Gln539HisfsTer?
NM_147127.4:c.1857_1866del	NP_667338.3:p.Gln619HisfsTer?
XM_011513392.1:c.1866_1875del	XP_011511694.1:p.Gln622HisfsTer?
XM_011513393.1:c.1866_1875del	XP_011511695.1:p.Gln622HisfsTer?
XM_011513394.1:c.1626_1635del	XP_011511696.1:p.Gln542HisfsTer?
XM_017007736.1:c.1617_1626del	XP_016863225.1:p.Gln539HisfsTer?
XM_017007737.1:c.1617_1626del	XP_016863226.1:p.Gln539HisfsTer?
XM_017007738.1:c.1857_1866del	XP_016863227.1:p.Gln619HisfsTer?
XM_017007739.1:c.177_186del	XP_016863228.1:p.Gln59HisfsTer?
XM_024453893.1:c.177_186del	XP_024309661.1:p.Gln59HisfsTer?
XR_001741141.1:n.1922_1931del
NM_147127.5:c.1857_1866del MANE Select	NP_667338.3:p.Gln619HisfsTer?
NM_001166136.2:c.1617_1626del	NP_001159608.1:p.Gln539HisfsTer?