Canonical Allele Identifier: CA364338303

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44304512G>C , CM000668.2:g.44304512G>C	GRCh38
NC_000006.11:g.44272249G>C , CM000668.1:g.44272249G>C	GRCh37
NC_000006.10:g.44380227G>C	NCBI36
NG_031952.1:g.13815C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020745.4:c.1774C>G (AARS2) MANE Select	NP_065796.2:p.Arg592Gly
ENST00000244571.5:c.1774C>G (AARS2) MANE Select	ENSP00000244571.4:p.Arg592Gly
NM_001318876.2:c.946-137378G>C (POLR1C)	NP_001305805.1:n.946-137378G>C
NM_020745.3:c.1774C>G (AARS2)	NP_065796.1:p.Arg592Gly
ENST00000244571.4:c.1774C>G (AARS2)	ENSP00000244571.4:p.Arg592Gly
ENST00000438774.2:c.577-2431G>C (TMEM151B)	ENSP00000409337.2:n.577-2431G>C
ENST00000505802.1:c.314-2431G>C
XM_005249245.2:c.1483C>G (AARS2)	XP_005249302.1:p.Arg495Gly
XM_005249245.3:c.1483C>G (AARS2)	XP_005249302.1:p.Arg495Gly
XM_011514764.1:c.1774C>G (AARS2)	XP_011513066.1:p.Arg592Gly
XM_011514764.2:c.1774C>G (AARS2)	XP_011513066.1:p.Arg592Gly
XM_017011112.1:c.484C>G (AARS2)	XP_016866601.1:p.Arg162Gly
XR_241907.2:n.1809C>G (AARS2)