Canonical Allele Identifier: CA2519004552

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313353-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313355_44313356del , CM000668.2:g.44313355_44313356del	GRCh38
NC_000006.11:g.44281092_44281093del , CM000668.1:g.44281092_44281093del	GRCh37
NC_000006.10:g.44389070_44389071del	NCBI36
NG_031952.1:g.4972_4973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505802.1:c.855+5713_855+5714del
XM_005249245.2:c.-32_-31del (AARS2)	XP_005249302.1:n.-32_-31del
XM_011514764.1:c.-32_-31del (AARS2)	XP_011513066.1:n.-32_-31del
XR_241907.2:n.4_5del (AARS2)
XM_005249245.3:c.-32_-31del (AARS2)	XP_005249302.1:n.-32_-31del
XM_011514764.2:c.-32_-31del (AARS2)	XP_011513066.1:n.-32_-31del
NM_001318876.2:c.946-128535_946-128534del (POLR1C)	NP_001305805.1:n.946-128535_946-128534del