Canonical Allele Identifier: CA1006274341

Gene: WARS2

Linked Data

• dbSNP Id: rs1647596600
• gnomAD v3: 1-119033265-GCTGT-G
• gnomAD v4: 1-119033265-GCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119033270_119033273del , CM000663.2:g.119033270_119033273del	GRCh38
NC_000001.10:g.119575893_119575896del , CM000663.1:g.119575893_119575896del	GRCh37
NC_000001.9:g.119377416_119377419del	NCBI36
NG_050658.1:g.112520_112523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.725_728del MANE Select	ENSP00000235521.4:p.Asp242AlafsTer5
ENST00000235521.4:c.725_728del	ENSP00000235521.4:p.Asp242AlafsTer5
ENST00000369426.9:c.*91_*94del	ENSP00000358434.5:n.*91_*94del
NM_015836.3:c.725_728del	NP_056651.1:p.Asp242AlafsTer5
NM_201263.2:c.*91_*94del	NP_957715.1:n.*91_*94del
XM_005270350.2:c.671_674del	XP_005270407.1:p.Asp224AlafsTer5
XM_006710283.1:c.443_446del	XP_006710346.1:p.Asp148AlafsTer5
XM_011540493.1:c.656_659del	XP_011538795.1:p.Asp219AlafsTer5
XM_011540494.1:c.656_659del	XP_011538796.1:p.Asp219AlafsTer5
XM_011540495.1:c.467_470del	XP_011538797.1:p.Asp156AlafsTer5
XM_005270350.3:c.671_674del	XP_005270407.1:p.Asp224AlafsTer5
XM_011540494.2:c.656_659del	XP_011538796.1:p.Asp219AlafsTer5
XM_011540495.2:c.467_470del	XP_011538797.1:p.Asp156AlafsTer5
XM_017000038.1:c.668_671del	XP_016855527.1:p.Asp223AlafsTer5
XM_017000039.1:c.656_659del	XP_016855528.1:p.Asp219AlafsTer5
XM_017000040.1:c.554_557del	XP_016855529.1:p.Asp185AlafsTer5
XM_017000041.2:c.386_389del	XP_016855530.1:p.Asp129AlafsTer5
XM_017000042.1:c.*60_*63del	XP_016855531.1:n.*60_*63del
XM_024449826.1:c.656_659del	XP_024305594.1:p.Asp219AlafsTer5
XM_024449860.1:c.443_446del	XP_024305628.1:p.Asp148AlafsTer5
XM_024449871.1:c.443_446del	XP_024305639.1:p.Asp148AlafsTer5
NM_001378226.1:c.656_659del	NP_001365155.1:p.Asp219AlafsTer5
NM_001378227.1:c.656_659del	NP_001365156.1:p.Asp219AlafsTer5
NM_001378228.1:c.554_557del	NP_001365157.1:p.Asp185AlafsTer5
NM_001378229.1:c.467_470del	NP_001365158.1:p.Asp156AlafsTer5
NM_001378230.1:c.443_446del	NP_001365159.1:p.Asp148AlafsTer5
NM_001378231.1:c.*60_*63del	NP_001365160.1:n.*60_*63del
NM_015836.4:c.725_728del MANE Select	NP_056651.1:p.Asp242AlafsTer5