Canonical Allele Identifier: CA2678955154

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313342-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313345dup , CM000668.2:g.44313345dup	GRCh38
NC_000006.11:g.44281082dup , CM000668.1:g.44281082dup	GRCh37
NC_000006.10:g.44389060dup	NCBI36
NG_031952.1:g.4984dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.-20dup (AARS2) MANE Select	ENSP00000244571.4:n.-20dup
ENST00000505802.1:c.855+5703dup
XM_005249245.2:c.-20dup (AARS2)	XP_005249302.1:n.-20dup
XM_011514764.1:c.-20dup (AARS2)	XP_011513066.1:n.-20dup
XR_241907.2:n.16dup (AARS2)
XM_005249245.3:c.-20dup (AARS2)	XP_005249302.1:n.-20dup
XM_011514764.2:c.-20dup (AARS2)	XP_011513066.1:n.-20dup
NM_020745.4:c.-20dup (AARS2) MANE Select	NP_065796.2:n.-20dup
NM_001318876.2:c.946-128545dup (POLR1C)	NP_001305805.1:n.946-128545dup