Canonical Allele Identifier: CA2678955126

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313328-G-GCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313330_44313332dup , CM000668.2:g.44313330_44313332dup	GRCh38
NC_000006.11:g.44281067_44281069dup , CM000668.1:g.44281067_44281069dup	GRCh37
NC_000006.10:g.44389045_44389047dup	NCBI36
NG_031952.1:g.4996_4998dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.-8_-6dup (AARS2) MANE Select	ENSP00000244571.4:n.-8_-6dup
ENST00000505802.1:c.855+5688_855+5690dup
XM_005249245.2:c.-8_-6dup (AARS2)	XP_005249302.1:n.-8_-6dup
XM_011514764.1:c.-8_-6dup (AARS2)	XP_011513066.1:n.-8_-6dup
XR_241907.2:n.28_30dup (AARS2)
XM_005249245.3:c.-8_-6dup (AARS2)	XP_005249302.1:n.-8_-6dup
XM_011514764.2:c.-8_-6dup (AARS2)	XP_011513066.1:n.-8_-6dup
NM_020745.4:c.-8_-6dup (AARS2) MANE Select	NP_065796.2:n.-8_-6dup
NM_001318876.2:c.946-128560_946-128558dup (POLR1C)	NP_001305805.1:n.946-128560_946-128558dup