Canonical Allele Identifier: CA3834586

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs767426917
• ExAC: 6:44278850 C / T
• gnomAD v2: 6-44278850-C-T
• gnomAD v4: 6-44311113-C-T
• MyVariant Identifiers: chr6:g.44278850C>T (hg19) ; chr6:g.44311113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311113C>T , CM000668.2:g.44311113C>T	GRCh38
NC_000006.11:g.44278850C>T , CM000668.1:g.44278850C>T	GRCh37
NC_000006.10:g.44386828C>T	NCBI36
NG_031952.1:g.7214G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.630G>A (AARS2) MANE Select	ENSP00000244571.4:p.Trp210Ter
ENST00000244571.4:c.630G>A (AARS2)	ENSP00000244571.4:p.Trp210Ter
ENST00000505802.1:c.855+3471C>T
NM_020745.3:c.630G>A (AARS2)	NP_065796.1:p.Trp210Ter
XM_005249245.2:c.630G>A (AARS2)	XP_005249302.1:p.Trp210Ter
XM_011514764.1:c.630G>A (AARS2)	XP_011513066.1:p.Trp210Ter
XR_241907.2:n.665G>A (AARS2)
XM_005249245.3:c.630G>A (AARS2)	XP_005249302.1:p.Trp210Ter
XM_011514764.2:c.630G>A (AARS2)	XP_011513066.1:p.Trp210Ter
XM_017011112.1:c.-389G>A (AARS2)	XP_016866601.1:n.-389G>A
NM_020745.4:c.630G>A (AARS2) MANE Select	NP_065796.2:p.Trp210Ter
NM_001318876.2:c.946-130777C>T (POLR1C)	NP_001305805.1:n.946-130777C>T