Canonical Allele Identifier: CA2841438396

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300493T>A , CM000668.2:g.44300493T>A	GRCh38
NC_000006.11:g.44268230T>A , CM000668.1:g.44268230T>A	GRCh37
NC_000006.10:g.44376208T>A	NCBI36
NG_031952.1:g.17834A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.*54A>T (AARS2) MANE Select	ENSP00000244571.4:n.*54A>T
ENST00000244571.4:c.*54A>T (AARS2)	ENSP00000244571.4:n.*54A>T
ENST00000438774.2:c.577-6450T>A (TMEM151B)	ENSP00000409337.2:n.577-6450T>A
ENST00000505802.1:c.314-6450T>A
NM_020745.3:c.*54A>T (AARS2)	NP_065796.1:n.*54A>T
XM_005249245.2:c.*54A>T (AARS2)	XP_005249302.1:n.*54A>T
XM_011514764.1:c.2793+663A>T (AARS2)	XP_011513066.1:n.2793+663A>T
XM_005249245.3:c.*54A>T (AARS2)	XP_005249302.1:n.*54A>T
XM_011514764.2:c.2793+663A>T (AARS2)	XP_011513066.1:n.2793+663A>T
XM_017011112.1:c.*54A>T (AARS2)	XP_016866601.1:n.*54A>T
NM_020745.4:c.*54A>T (AARS2) MANE Select	NP_065796.2:n.*54A>T
NM_001318876.2:c.946-141397T>A (POLR1C)	NP_001305805.1:n.946-141397T>A