Canonical Allele Identifier: CA1624929204

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311392_44311393delinsTA , CM000668.2:g.44311392_44311393delinsTA	GRCh38
NC_000006.11:g.44279129_44279130delinsTA , CM000668.1:g.44279129_44279130delinsTA	GRCh37
NC_000006.10:g.44387107_44387108delinsTA	NCBI36
NG_031952.1:g.6934_6935delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.578_579delinsTA (AARS2) MANE Select	ENSP00000244571.4:p.Leu193=
ENST00000244571.4:c.578_579delinsTA (AARS2)	ENSP00000244571.4:p.Leu193=
ENST00000505802.1:c.855+3750_855+3751delinsTA
NM_020745.3:c.578_579delinsTA (AARS2)	NP_065796.1:p.Leu193=
XM_005249245.2:c.578_579delinsTA (AARS2)	XP_005249302.1:p.Leu193=
XM_011514764.1:c.578_579delinsTA (AARS2)	XP_011513066.1:p.Leu193=
XR_241907.2:n.613_614delinsTA (AARS2)
XM_005249245.3:c.578_579delinsTA (AARS2)	XP_005249302.1:p.Leu193=
XM_011514764.2:c.578_579delinsTA (AARS2)	XP_011513066.1:p.Leu193=
XM_017011112.1:c.-441_-440delinsTA (AARS2)	XP_016866601.1:n.-441_-440delinsTA
NM_020745.4:c.578_579delinsTA (AARS2) MANE Select	NP_065796.2:p.Leu193=
NM_001318876.2:c.946-130498_946-130497delinsTA (POLR1C)	NP_001305805.1:n.946-130498_946-130497delinsTA