Canonical Allele Identifier: CA364335516

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44268349C>G (hg19) ; chr6:g.44300612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300612C>G , CM000668.2:g.44300612C>G	GRCh38
NC_000006.11:g.44268349C>G , CM000668.1:g.44268349C>G	GRCh37
NC_000006.10:g.44376327C>G	NCBI36
NG_031952.1:g.17715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2893G>C (AARS2) MANE Select	ENSP00000244571.4:p.Gly965Arg
ENST00000244571.4:c.2893G>C (AARS2)	ENSP00000244571.4:p.Gly965Arg
ENST00000438774.2:c.577-6331C>G (TMEM151B)	ENSP00000409337.2:n.577-6331C>G
ENST00000491573.1:n.695G>C (AARS2)
ENST00000505802.1:c.314-6331C>G
NM_020745.3:c.2893G>C (AARS2)	NP_065796.1:p.Gly965Arg
XM_005249245.2:c.2602G>C (AARS2)	XP_005249302.1:p.Gly868Arg
XM_011514764.1:c.2793+544G>C (AARS2)	XP_011513066.1:n.2793+544G>C
XR_241907.2:n.2818G>C (AARS2)
XM_005249245.3:c.2602G>C (AARS2)	XP_005249302.1:p.Gly868Arg
XM_011514764.2:c.2793+544G>C (AARS2)	XP_011513066.1:n.2793+544G>C
XM_017011112.1:c.1603G>C (AARS2)	XP_016866601.1:p.Gly535Arg
NM_020745.4:c.2893G>C (AARS2) MANE Select	NP_065796.2:p.Gly965Arg
NM_001318876.2:c.946-141278C>G (POLR1C)	NP_001305805.1:n.946-141278C>G