Canonical Allele Identifier: CA1624921776

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs773357868

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300539G>A , CM000668.2:g.44300539G>A	GRCh38
NC_000006.11:g.44268276G>A , CM000668.1:g.44268276G>A	GRCh37
NC_000006.10:g.44376254G>A	NCBI36
NG_031952.1:g.17788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.*8C>T (AARS2) MANE Select	ENSP00000244571.4:n.*8C>T
ENST00000244571.4:c.*8C>T (AARS2)	ENSP00000244571.4:n.*8C>T
ENST00000438774.2:c.577-6404G>A (TMEM151B)	ENSP00000409337.2:n.577-6404G>A
ENST00000505802.1:c.314-6404G>A
NM_020745.3:c.*8C>T (AARS2)	NP_065796.1:n.*8C>T
XM_005249245.2:c.*8C>T (AARS2)	XP_005249302.1:n.*8C>T
XM_011514764.1:c.2793+617C>T (AARS2)	XP_011513066.1:n.2793+617C>T
XR_241907.2:n.2891C>T (AARS2)
XM_005249245.3:c.*8C>T (AARS2)	XP_005249302.1:n.*8C>T
XM_011514764.2:c.2793+617C>T (AARS2)	XP_011513066.1:n.2793+617C>T
XM_017011112.1:c.*8C>T (AARS2)	XP_016866601.1:n.*8C>T
NM_020745.4:c.*8C>T (AARS2) MANE Select	NP_065796.2:n.*8C>T
NM_001318876.2:c.946-141351G>A (POLR1C)	NP_001305805.1:n.946-141351G>A