Canonical Allele Identifier: CA3834598

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs779936626
• ExAC: 6:44278916 T / TGAGTGG
• gnomAD v2: 6-44278916-T-TGAGTGG
• gnomAD v4: 6-44311179-T-TGAGTGG
• MyVariant Identifiers: chr6:g.44278918_44278919insGTGGGA (hg19) ; chr6:g.44278916_44278917insGAGTGG (hg19) ; chr6:g.44311181_44311182insGTGGGA (hg38) ; chr6:g.44311179_44311180insGAGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311180_44311185dup , CM000668.2:g.44311180_44311185dup	GRCh38
NC_000006.11:g.44278917_44278922dup , CM000668.1:g.44278917_44278922dup	GRCh37
NC_000006.10:g.44386895_44386900dup	NCBI36
NG_031952.1:g.7142_7147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-24_582-19dup (AARS2) MANE Select	ENSP00000244571.4:n.582-24_582-19dup
ENST00000244571.4:c.582-24_582-19dup (AARS2)	ENSP00000244571.4:n.582-24_582-19dup
ENST00000505802.1:c.855+3538_855+3543dup
NM_020745.3:c.582-24_582-19dup (AARS2)	NP_065796.1:n.582-24_582-19dup
XM_005249245.2:c.582-24_582-19dup (AARS2)	XP_005249302.1:n.582-24_582-19dup
XM_011514764.1:c.582-24_582-19dup (AARS2)	XP_011513066.1:n.582-24_582-19dup
XR_241907.2:n.617-24_617-19dup (AARS2)
XM_005249245.3:c.582-24_582-19dup (AARS2)	XP_005249302.1:n.582-24_582-19dup
XM_011514764.2:c.582-24_582-19dup (AARS2)	XP_011513066.1:n.582-24_582-19dup
XM_017011112.1:c.-437-24_-437-19dup (AARS2)	XP_016866601.1:n.-437-24_-437-19dup
NM_020745.4:c.582-24_582-19dup (AARS2) MANE Select	NP_065796.2:n.582-24_582-19dup
NM_001318876.2:c.946-130710_946-130705dup (POLR1C)	NP_001305805.1:n.946-130710_946-130705dup