Canonical Allele Identifier: CA2678955048

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313204-CGAGGCCTTGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313206_44313217del , CM000668.2:g.44313206_44313217del	GRCh38
NC_000006.11:g.44280943_44280954del , CM000668.1:g.44280943_44280954del	GRCh37
NC_000006.10:g.44388921_44388932del	NCBI36
NG_031952.1:g.5111_5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.108_119del (AARS2) MANE Select	ENSP00000244571.4:p.Ala37_Ser40del
ENST00000244571.4:c.108_119del (AARS2)	ENSP00000244571.4:p.Ala37_Ser40del
ENST00000505802.1:c.855+5564_855+5575del
NM_020745.3:c.108_119del (AARS2)	NP_065796.1:p.Ala37_Ser40del
XM_005249245.2:c.108_119del (AARS2)	XP_005249302.1:p.Ala37_Ser40del
XM_011514764.1:c.108_119del (AARS2)	XP_011513066.1:p.Ala37_Ser40del
XR_241907.2:n.143_154del (AARS2)
XM_005249245.3:c.108_119del (AARS2)	XP_005249302.1:p.Ala37_Ser40del
XM_011514764.2:c.108_119del (AARS2)	XP_011513066.1:p.Ala37_Ser40del
NM_020745.4:c.108_119del (AARS2) MANE Select	NP_065796.2:p.Ala37_Ser40del
NM_001318876.2:c.946-128684_946-128673del (POLR1C)	NP_001305805.1:n.946-128684_946-128673del