Canonical Allele Identifier: CA2678953091

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302376-AGGCGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302380_44302384del , CM000668.2:g.44302380_44302384del	GRCh38
NC_000006.11:g.44270117_44270121del , CM000668.1:g.44270117_44270121del	GRCh37
NC_000006.10:g.44378095_44378099del	NCBI36
NG_031952.1:g.15946_15950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2487+10_2487+14del (AARS2) MANE Select	ENSP00000244571.4:n.2487+10_2487+14del
ENST00000244571.4:c.2487+10_2487+14del (AARS2)	ENSP00000244571.4:n.2487+10_2487+14del
ENST00000438774.2:c.577-4563_577-4559del (TMEM151B)	ENSP00000409337.2:n.577-4563_577-4559del
ENST00000505802.1:c.314-4563_314-4559del
NM_020745.3:c.2487+10_2487+14del (AARS2)	NP_065796.1:n.2487+10_2487+14del
XM_005249245.2:c.2196+10_2196+14del (AARS2)	XP_005249302.1:n.2196+10_2196+14del
XM_011514764.1:c.2487+10_2487+14del (AARS2)	XP_011513066.1:n.2487+10_2487+14del
XR_241907.2:n.2412+10_2412+14del (AARS2)
XM_005249245.3:c.2196+10_2196+14del (AARS2)	XP_005249302.1:n.2196+10_2196+14del
XM_011514764.2:c.2487+10_2487+14del (AARS2)	XP_011513066.1:n.2487+10_2487+14del
XM_017011112.1:c.1197+10_1197+14del (AARS2)	XP_016866601.1:n.1197+10_1197+14del
NM_020745.4:c.2487+10_2487+14del (AARS2) MANE Select	NP_065796.2:n.2487+10_2487+14del
NM_001318876.2:c.946-139510_946-139506del (POLR1C)	NP_001305805.1:n.946-139510_946-139506del