Canonical Allele Identifier: CA364337135

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44270576G>T (hg19) ; chr6:g.44302839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302839G>T , CM000668.2:g.44302839G>T	GRCh38
NC_000006.11:g.44270576G>T , CM000668.1:g.44270576G>T	GRCh37
NC_000006.10:g.44378554G>T	NCBI36
NG_031952.1:g.15488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2327C>A (AARS2) MANE Select	ENSP00000244571.4:p.Thr776Asn
ENST00000244571.4:c.2327C>A (AARS2)	ENSP00000244571.4:p.Thr776Asn
ENST00000438774.2:c.577-4104G>T (TMEM151B)	ENSP00000409337.2:n.577-4104G>T
ENST00000505802.1:c.314-4104G>T
NM_020745.3:c.2327C>A (AARS2)	NP_065796.1:p.Thr776Asn
XM_005249245.2:c.2036C>A (AARS2)	XP_005249302.1:p.Thr679Asn
XM_011514764.1:c.2327C>A (AARS2)	XP_011513066.1:p.Thr776Asn
XR_241907.2:n.2252C>A (AARS2)
XM_005249245.3:c.2036C>A (AARS2)	XP_005249302.1:p.Thr679Asn
XM_011514764.2:c.2327C>A (AARS2)	XP_011513066.1:p.Thr776Asn
XM_017011112.1:c.1037C>A (AARS2)	XP_016866601.1:p.Thr346Asn
NM_020745.4:c.2327C>A (AARS2) MANE Select	NP_065796.2:p.Thr776Asn
NM_001318876.2:c.946-139051G>T (POLR1C)	NP_001305805.1:n.946-139051G>T