Canonical Allele Identifier: CA2678953729

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303364-C-CTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG , CM000668.2:g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG	GRCh38
NC_000006.11:g.44271101_44271102insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG , CM000668.1:g.44271101_44271102insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG	GRCh37
NC_000006.10:g.44379079_44379080insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG	NCBI36
NG_031952.1:g.14962_14963insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2) MANE Select	ENSP00000244571.4:p.Gln690AlafsTer?
ENST00000244571.4:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	ENSP00000244571.4:p.Gln690AlafsTer?
ENST00000438774.2:c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG (TMEM151B)	ENSP00000409337.2:n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGG...
ENST00000505802.1:c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG
NM_020745.3:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	NP_065796.1:p.Gln690AlafsTer?
XM_005249245.2:c.1775_1776insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_005249302.1:p.Gln593AlafsTer?
XM_011514764.1:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_011513066.1:p.Gln690AlafsTer?
XR_241907.2:n.2101_2102insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)
XM_005249245.3:c.1775_1776insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_005249302.1:p.Gln593AlafsTer?
XM_011514764.2:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_011513066.1:p.Gln690AlafsTer?
XM_017011112.1:c.776_777insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2)	XP_016866601.1:p.Gln260AlafsTer?
NM_020745.4:c.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (AARS2) MANE Select	NP_065796.2:p.Gln690AlafsTer?
NM_001318876.2:c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG (POLR1C)	NP_001305805.1:n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGG...