Canonical Allele Identifier: CA364337289

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303066-G-T
• MyVariant Identifiers: chr6:g.44270803G>T (hg19) ; chr6:g.44303066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303066G>T , CM000668.2:g.44303066G>T	GRCh38
NC_000006.11:g.44270803G>T , CM000668.1:g.44270803G>T	GRCh37
NC_000006.10:g.44378781G>T	NCBI36
NG_031952.1:g.15261C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2255C>A (AARS2) MANE Select	ENSP00000244571.4:p.Thr752Lys
ENST00000244571.4:c.2255C>A (AARS2)	ENSP00000244571.4:p.Thr752Lys
ENST00000438774.2:c.577-3877G>T (TMEM151B)	ENSP00000409337.2:n.577-3877G>T
ENST00000505802.1:c.314-3877G>T
NM_020745.3:c.2255C>A (AARS2)	NP_065796.1:p.Thr752Lys
XM_005249245.2:c.1964C>A (AARS2)	XP_005249302.1:p.Thr655Lys
XM_011514764.1:c.2255C>A (AARS2)	XP_011513066.1:p.Thr752Lys
XR_241907.2:n.2181-156C>A (AARS2)
XM_005249245.3:c.1964C>A (AARS2)	XP_005249302.1:p.Thr655Lys
XM_011514764.2:c.2255C>A (AARS2)	XP_011513066.1:p.Thr752Lys
XM_017011112.1:c.965C>A (AARS2)	XP_016866601.1:p.Thr322Lys
NM_020745.4:c.2255C>A (AARS2) MANE Select	NP_065796.2:p.Thr752Lys
NM_001318876.2:c.946-138824G>T (POLR1C)	NP_001305805.1:n.946-138824G>T