Canonical Allele Identifier: CA2678954128

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44310921-G-GATC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44310923_44310925dup , CM000668.2:g.44310923_44310925dup	GRCh38
NC_000006.11:g.44278660_44278662dup , CM000668.1:g.44278660_44278662dup	GRCh37
NC_000006.10:g.44386638_44386640dup	NCBI36
NG_031952.1:g.7403_7405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.749+70_749+72dup (AARS2) MANE Select	ENSP00000244571.4:n.749+70_749+72dup
ENST00000244571.4:c.749+70_749+72dup (AARS2)	ENSP00000244571.4:n.749+70_749+72dup
ENST00000505802.1:c.855+3281_855+3283dup
NM_020745.3:c.749+70_749+72dup (AARS2)	NP_065796.1:n.749+70_749+72dup
XM_005249245.2:c.749+70_749+72dup (AARS2)	XP_005249302.1:n.749+70_749+72dup
XM_011514764.1:c.749+70_749+72dup (AARS2)	XP_011513066.1:n.749+70_749+72dup
XR_241907.2:n.784+70_784+72dup (AARS2)
XM_005249245.3:c.749+70_749+72dup (AARS2)	XP_005249302.1:n.749+70_749+72dup
XM_011514764.2:c.749+70_749+72dup (AARS2)	XP_011513066.1:n.749+70_749+72dup
XM_017011112.1:c.-270+70_-270+72dup (AARS2)	XP_016866601.1:n.-270+70_-270+72dup
NM_020745.4:c.749+70_749+72dup (AARS2) MANE Select	NP_065796.2:n.749+70_749+72dup
NM_001318876.2:c.946-130967_946-130965dup (POLR1C)	NP_001305805.1:n.946-130967_946-130965dup...