Canonical Allele Identifier: CA2571168639

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313215_44313218del , CM000668.2:g.44313215_44313218del	GRCh38
NC_000006.11:g.44280952_44280955del , CM000668.1:g.44280952_44280955del	GRCh37
NC_000006.10:g.44388930_44388933del	NCBI36
NG_031952.1:g.5109_5112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.106_109del (AARS2) MANE Select	ENSP00000244571.4:p.Ala36ProfsTer6
ENST00000244571.4:c.106_109del (AARS2)	ENSP00000244571.4:p.Ala36ProfsTer6
ENST00000505802.1:c.855+5573_855+5576del
NM_020745.3:c.106_109del (AARS2)	NP_065796.1:p.Ala36ProfsTer6
XM_005249245.2:c.106_109del (AARS2)	XP_005249302.1:p.Ala36ProfsTer6
XM_011514764.1:c.106_109del (AARS2)	XP_011513066.1:p.Ala36ProfsTer6
XR_241907.2:n.141_144del (AARS2)
XM_005249245.3:c.106_109del (AARS2)	XP_005249302.1:p.Ala36ProfsTer6
XM_011514764.2:c.106_109del (AARS2)	XP_011513066.1:p.Ala36ProfsTer6
NM_020745.4:c.106_109del (AARS2) MANE Select	NP_065796.2:p.Ala36ProfsTer6
NM_001318876.2:c.946-128675_946-128672del (POLR1C)	NP_001305805.1:n.946-128675_946-128672del