Canonical Allele Identifier: CA2521609109

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311076_44311077insCTTATGTGATTGA , CM000668.2:g.44311076_44311077insCTTATGTGATTGA	GRCh38
NC_000006.11:g.44278813_44278814insCTTATGTGATTGA , CM000668.1:g.44278813_44278814insCTTATGTGATTGA	GRCh37
NC_000006.10:g.44386791_44386792insCTTATGTGATTGA	NCBI36
NG_031952.1:g.7250_7251insTCAATCACATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.666_667insTCAATCACATAAG (AARS2) MANE Select	ENSP00000244571.4:p.Glu223SerfsTer4
ENST00000244571.4:c.666_667insTCAATCACATAAG (AARS2)	ENSP00000244571.4:p.Glu223SerfsTer4
ENST00000505802.1:c.855+3434_855+3435insCTTATGTGATTGA
NM_020745.3:c.666_667insTCAATCACATAAG (AARS2)	NP_065796.1:p.Glu223SerfsTer4
XM_005249245.2:c.666_667insTCAATCACATAAG (AARS2)	XP_005249302.1:p.Glu223SerfsTer4
XM_011514764.1:c.666_667insTCAATCACATAAG (AARS2)	XP_011513066.1:p.Glu223SerfsTer4
XR_241907.2:n.701_702insTCAATCACATAAG (AARS2)
XM_005249245.3:c.666_667insTCAATCACATAAG (AARS2)	XP_005249302.1:p.Glu223SerfsTer4
XM_011514764.2:c.666_667insTCAATCACATAAG (AARS2)	XP_011513066.1:p.Glu223SerfsTer4
XM_017011112.1:c.-353_-352insTCAATCACATAAG (AARS2)	XP_016866601.1:n.-353_-352insTCAATCACATAAG
NM_020745.4:c.666_667insTCAATCACATAAG (AARS2) MANE Select	NP_065796.2:p.Glu223SerfsTer4
NM_001318876.2:c.946-130814_946-130813insCTTATGTGATTGA (POLR1C)	NP_001305805.1:n.946-130814_946-130813insCTTATGTGATTGA