Canonical Allele Identifier: CA1624922822

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302048_44302051delinsACCT , CM000668.2:g.44302048_44302051delinsACCT	GRCh38
NC_000006.11:g.44269785_44269788delinsACCT , CM000668.1:g.44269785_44269788delinsACCT	GRCh37
NC_000006.10:g.44377763_44377766delinsACCT	NCBI36
NG_031952.1:g.16276_16279delinsAGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2598+9_2598+12delinsAGGT (AARS2) MANE Select	ENSP00000244571.4:n.2598+9_2598+12delinsA...
ENST00000244571.4:c.2598+9_2598+12delinsAGGT (AARS2)	ENSP00000244571.4:n.2598+9_2598+12delinsA...
ENST00000438774.2:c.577-4895_577-4892delinsACCT (TMEM151B)	ENSP00000409337.2:n.577-4895_577-4892deli...
ENST00000505802.1:c.314-4895_314-4892delinsACCT
NM_020745.3:c.2598+9_2598+12delinsAGGT (AARS2)	NP_065796.1:n.2598+9_2598+12delinsAGGT
XM_005249245.2:c.2307+9_2307+12delinsAGGT (AARS2)	XP_005249302.1:n.2307+9_2307+12delinsAGGT...
XM_011514764.1:c.2598+9_2598+12delinsAGGT (AARS2)	XP_011513066.1:n.2598+9_2598+12delinsAGGT...
XR_241907.2:n.2523+9_2523+12delinsAGGT (AARS2)
XM_005249245.3:c.2307+9_2307+12delinsAGGT (AARS2)	XP_005249302.1:n.2307+9_2307+12delinsAGGT...
XM_011514764.2:c.2598+9_2598+12delinsAGGT (AARS2)	XP_011513066.1:n.2598+9_2598+12delinsAGGT...
XM_017011112.1:c.1308+9_1308+12delinsAGGT (AARS2)	XP_016866601.1:n.1308+9_1308+12delinsAGGT...
NM_020745.4:c.2598+9_2598+12delinsAGGT (AARS2) MANE Select	NP_065796.2:n.2598+9_2598+12delinsAGGT
NM_001318876.2:c.946-139842_946-139839delinsACCT (POLR1C)	NP_001305805.1:n.946-139842_946-139839del...