Canonical Allele Identifier: CA2678953732

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303364-C-CTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG , CM000668.2:g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG	GRCh38
NC_000006.11:g.44271101_44271102insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG , CM000668.1:g.44271101_44271102insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG	GRCh37
NC_000006.10:g.44379079_44379080insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG	NCBI36
NG_031952.1:g.14962_14963insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2) MANE Select	ENSP00000244571.4:p.Gln690CysfsTer?
ENST00000244571.4:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	ENSP00000244571.4:p.Gln690CysfsTer?
ENST00000438774.2:c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG (TMEM151B)	ENSP00000409337.2:n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGG...
ENST00000505802.1:c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG
NM_020745.3:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	NP_065796.1:p.Gln690CysfsTer?
XM_005249245.2:c.1775_1776insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_005249302.1:p.Gln593CysfsTer?
XM_011514764.1:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_011513066.1:p.Gln690CysfsTer?
XR_241907.2:n.2101_2102insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)
XM_005249245.3:c.1775_1776insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_005249302.1:p.Gln593CysfsTer?
XM_011514764.2:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_011513066.1:p.Gln690CysfsTer?
XM_017011112.1:c.776_777insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_016866601.1:p.Gln260CysfsTer?
NM_020745.4:c.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2) MANE Select	NP_065796.2:p.Gln690CysfsTer?
NM_001318876.2:c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG (POLR1C)	NP_001305805.1:n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGG...