Canonical Allele Identifier: CA1624931902

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786533150

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313256dup , CM000668.2:g.44313256dup	GRCh38
NC_000006.11:g.44280993dup , CM000668.1:g.44280993dup	GRCh37
NC_000006.10:g.44388971dup	NCBI36
NG_031952.1:g.5074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.71dup (AARS2) MANE Select	ENSP00000244571.4:p.Leu25ProfsTer?
ENST00000244571.4:c.71dup (AARS2)	ENSP00000244571.4:p.Leu25ProfsTer?
ENST00000505802.1:c.855+5614dup
NM_020745.3:c.71dup (AARS2)	NP_065796.1:p.Leu25ProfsTer?
XM_005249245.2:c.71dup (AARS2)	XP_005249302.1:p.Leu25ProfsTer?
XM_011514764.1:c.71dup (AARS2)	XP_011513066.1:p.Leu25ProfsTer?
XR_241907.2:n.106dup (AARS2)
XM_005249245.3:c.71dup (AARS2)	XP_005249302.1:p.Leu25ProfsTer?
XM_011514764.2:c.71dup (AARS2)	XP_011513066.1:p.Leu25ProfsTer?
NM_020745.4:c.71dup (AARS2) MANE Select	NP_065796.2:p.Leu25ProfsTer?
NM_001318876.2:c.946-128634dup (POLR1C)	NP_001305805.1:n.946-128634dup