Canonical Allele Identifier: CA3834611

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs774077726
• ExAC: 6:44279107 TAAG / T
• gnomAD v2: 6-44279107-TAAG-T
• gnomAD v3: 6-44311370-TAAG-T
• gnomAD v4: 6-44311370-TAAG-T
• MyVariant Identifiers: chr6:g.44279108_44279110del (hg19) ; chr6:g.44311371_44311373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311374_44311376del , CM000668.2:g.44311374_44311376del	GRCh38
NC_000006.11:g.44279111_44279113del , CM000668.1:g.44279111_44279113del	GRCh37
NC_000006.10:g.44387089_44387091del	NCBI36
NG_031952.1:g.6954_6956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.581+17_581+19del (AARS2) MANE Select	ENSP00000244571.4:n.581+17_581+19del
ENST00000244571.4:c.581+17_581+19del (AARS2)	ENSP00000244571.4:n.581+17_581+19del
ENST00000505802.1:c.855+3732_855+3734del
NM_020745.3:c.581+17_581+19del (AARS2)	NP_065796.1:n.581+17_581+19del
XM_005249245.2:c.581+17_581+19del (AARS2)	XP_005249302.1:n.581+17_581+19del
XM_011514764.1:c.581+17_581+19del (AARS2)	XP_011513066.1:n.581+17_581+19del
XR_241907.2:n.616+17_616+19del (AARS2)
XM_005249245.3:c.581+17_581+19del (AARS2)	XP_005249302.1:n.581+17_581+19del
XM_011514764.2:c.581+17_581+19del (AARS2)	XP_011513066.1:n.581+17_581+19del
XM_017011112.1:c.-438+17_-438+19del (AARS2)	XP_016866601.1:n.-438+17_-438+19del
NM_020745.4:c.581+17_581+19del (AARS2) MANE Select	NP_065796.2:n.581+17_581+19del
NM_001318876.2:c.946-130516_946-130514del (POLR1C)	NP_001305805.1:n.946-130516_946-130514del