Canonical Allele Identifier: CA2678954171

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311095-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311097del , CM000668.2:g.44311097del	GRCh38
NC_000006.11:g.44278834del , CM000668.1:g.44278834del	GRCh37
NC_000006.10:g.44386812del	NCBI36
NG_031952.1:g.7231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.647del (AARS2) MANE Select	ENSP00000244571.4:p.Gly216AlafsTer23
ENST00000244571.4:c.647del (AARS2)	ENSP00000244571.4:p.Gly216AlafsTer23
ENST00000505802.1:c.855+3455del
NM_020745.3:c.647del (AARS2)	NP_065796.1:p.Gly216AlafsTer23
XM_005249245.2:c.647del (AARS2)	XP_005249302.1:p.Gly216AlafsTer23
XM_011514764.1:c.647del (AARS2)	XP_011513066.1:p.Gly216AlafsTer23
XR_241907.2:n.682del (AARS2)
XM_005249245.3:c.647del (AARS2)	XP_005249302.1:p.Gly216AlafsTer23
XM_011514764.2:c.647del (AARS2)	XP_011513066.1:p.Gly216AlafsTer23
XM_017011112.1:c.-372del (AARS2)	XP_016866601.1:n.-372del
NM_020745.4:c.647del (AARS2) MANE Select	NP_065796.2:p.Gly216AlafsTer23
NM_001318876.2:c.946-130793del (POLR1C)	NP_001305805.1:n.946-130793del