Canonical Allele Identifier: CA1624928907

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311157_44311158delinsGC , CM000668.2:g.44311157_44311158delinsGC	GRCh38
NC_000006.11:g.44278894_44278895delinsGC , CM000668.1:g.44278894_44278895delinsGC	GRCh37
NC_000006.10:g.44386872_44386873delinsGC	NCBI36
NG_031952.1:g.7169_7170delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.585_586delinsGC (AARS2) MANE Select	ENSP00000244571.4:p.Val195=
ENST00000244571.4:c.585_586delinsGC (AARS2)	ENSP00000244571.4:p.Val195=
ENST00000505802.1:c.855+3515_855+3516delinsGC
NM_020745.3:c.585_586delinsGC (AARS2)	NP_065796.1:p.Val195=
XM_005249245.2:c.585_586delinsGC (AARS2)	XP_005249302.1:p.Val195=
XM_011514764.1:c.585_586delinsGC (AARS2)	XP_011513066.1:p.Val195=
XR_241907.2:n.620_621delinsGC (AARS2)
XM_005249245.3:c.585_586delinsGC (AARS2)	XP_005249302.1:p.Val195=
XM_011514764.2:c.585_586delinsGC (AARS2)	XP_011513066.1:p.Val195=
XM_017011112.1:c.-434_-433delinsGC (AARS2)	XP_016866601.1:n.-434_-433delinsGC
NM_020745.4:c.585_586delinsGC (AARS2) MANE Select	NP_065796.2:p.Val195=
NM_001318876.2:c.946-130733_946-130732delinsGC (POLR1C)	NP_001305805.1:n.946-130733_946-130732del...