Canonical Allele Identifier: CA566845109

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 818065
• ClinVar RCV Id: RCV001009309
• dbSNP Id: rs1167314179
• gnomAD v2: 6-44271115-GCA-G
• gnomAD v4: 6-44303378-GCA-G
• MyVariant Identifiers: chr6:g.44271116_44271117del (hg19) ; chr6:g.44303379_44303380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303381_44303382del , CM000668.2:g.44303381_44303382del	GRCh38
NC_000006.11:g.44271118_44271119del , CM000668.1:g.44271118_44271119del	GRCh37
NC_000006.10:g.44379096_44379097del	NCBI36
NG_031952.1:g.14947_14948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2051_2052del (AARS2) MANE Select	ENSP00000244571.4:p.Val684AlafsTer8
ENST00000244571.4:c.2051_2052del (AARS2)	ENSP00000244571.4:p.Val684AlafsTer8
ENST00000438774.2:c.577-3562_577-3561del (TMEM151B)	ENSP00000409337.2:n.577-3562_577-3561del
ENST00000505802.1:c.314-3562_314-3561del
NM_020745.3:c.2051_2052del (AARS2)	NP_065796.1:p.Val684AlafsTer8
XM_005249245.2:c.1760_1761del (AARS2)	XP_005249302.1:p.Val587AlafsTer8
XM_011514764.1:c.2051_2052del (AARS2)	XP_011513066.1:p.Val684AlafsTer8
XR_241907.2:n.2086_2087del (AARS2)
XM_005249245.3:c.1760_1761del (AARS2)	XP_005249302.1:p.Val587AlafsTer8
XM_011514764.2:c.2051_2052del (AARS2)	XP_011513066.1:p.Val684AlafsTer8
XM_017011112.1:c.761_762del (AARS2)	XP_016866601.1:p.Val254AlafsTer8
NM_020745.4:c.2051_2052del (AARS2) MANE Select	NP_065796.2:p.Val684AlafsTer8
NM_001318876.2:c.946-138509_946-138508del (POLR1C)	NP_001305805.1:n.946-138509_946-138508del