Canonical Allele Identifier: CA30387433

Gene: WARS2

Linked Data

• dbSNP Id: rs144299657
• gnomAD v2: 1-119682979-GA-G
• gnomAD v3: 1-119140356-GA-G
• gnomAD v4: 1-119140356-GA-G
• MyVariant Identifiers: chr1:g.119682980del (hg19) ; chr1:g.119140357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119140359del , CM000663.2:g.119140359del	GRCh38
NC_000001.10:g.119682982del , CM000663.1:g.119682982del	GRCh37
NC_000001.9:g.119484505del	NCBI36
NG_050658.1:g.5432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235521.5:c.90+198del MANE Select	ENSP00000235521.4:n.90+198del
ENST00000235521.4:c.90+198del	ENSP00000235521.4:n.90+198del
ENST00000369426.9:c.90+198del	ENSP00000358434.5:n.90+198del
ENST00000495746.5:n.100+198del
ENST00000497761.1:n.186del
NM_015836.3:c.90+198del	NP_056651.1:n.90+198del
NM_201263.2:c.90+198del	NP_957715.1:n.90+198del
XM_006710283.1:c.-282del	XP_006710346.1:n.-282del
XM_011540493.1:c.-154del	XP_011538795.1:n.-154del
XM_011540494.1:c.-65+198del	XP_011538796.1:n.-65+198del
XM_011540495.1:c.90+198del	XP_011538797.1:n.90+198del
XM_011540494.2:c.-65+198del	XP_011538796.1:n.-65+198del
XM_011540495.2:c.90+198del	XP_011538797.1:n.90+198del
XM_017000038.1:c.90+198del	XP_016855527.1:n.90+198del
XM_017000039.1:c.-154del	XP_016855528.1:n.-154del
XM_017000040.1:c.90+198del	XP_016855529.1:n.90+198del
XM_017000041.2:c.-282del	XP_016855530.1:n.-282del
XM_017000042.1:c.90+198del	XP_016855531.1:n.90+198del
XM_024449826.1:c.-154del	XP_024305594.1:n.-154del
XM_024449860.1:c.-282del	XP_024305628.1:n.-282del
XM_024449871.1:c.-282del	XP_024305639.1:n.-282del
NM_001378226.1:c.-65+198del	NP_001365155.1:n.-65+198del
NM_001378227.1:c.-154del	NP_001365156.1:n.-154del
NM_001378228.1:c.90+198del	NP_001365157.1:n.90+198del
NM_001378229.1:c.90+198del	NP_001365158.1:n.90+198del
NM_001378230.1:c.-282del	NP_001365159.1:n.-282del
NM_001378231.1:c.90+198del	NP_001365160.1:n.90+198del
NM_015836.4:c.90+198del MANE Select	NP_056651.1:n.90+198del