Canonical Allele Identifier: CA1624924419

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1785530229
• gnomAD v4: 6-44303373-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303374del , CM000668.2:g.44303374del	GRCh38
NC_000006.11:g.44271111del , CM000668.1:g.44271111del	GRCh37
NC_000006.10:g.44379089del	NCBI36
NG_031952.1:g.14953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2057del (AARS2) MANE Select	ENSP00000244571.4:p.Glu686GlyfsTer?
ENST00000244571.4:c.2057del (AARS2)	ENSP00000244571.4:p.Glu686GlyfsTer?
ENST00000438774.2:c.577-3569del (TMEM151B)	ENSP00000409337.2:n.577-3569del
ENST00000505802.1:c.314-3569del
NM_020745.3:c.2057del (AARS2)	NP_065796.1:p.Glu686GlyfsTer?
XM_005249245.2:c.1766del (AARS2)	XP_005249302.1:p.Glu589GlyfsTer?
XM_011514764.1:c.2057del (AARS2)	XP_011513066.1:p.Glu686GlyfsTer?
XR_241907.2:n.2092del (AARS2)
XM_005249245.3:c.1766del (AARS2)	XP_005249302.1:p.Glu589GlyfsTer?
XM_011514764.2:c.2057del (AARS2)	XP_011513066.1:p.Glu686GlyfsTer?
XM_017011112.1:c.767del (AARS2)	XP_016866601.1:p.Glu256GlyfsTer?
NM_020745.4:c.2057del (AARS2) MANE Select	NP_065796.2:p.Glu686GlyfsTer?
NM_001318876.2:c.946-138516del (POLR1C)	NP_001305805.1:n.946-138516del