Canonical Allele Identifier: CA1624931654

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786519652

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313131_44313148dup , CM000668.2:g.44313131_44313148dup	GRCh38
NC_000006.11:g.44280868_44280885dup , CM000668.1:g.44280868_44280885dup	GRCh37
NC_000006.10:g.44388846_44388863dup	NCBI36
NG_031952.1:g.5179_5196dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.176_193dup (AARS2) MANE Select	ENSP00000244571.4:p.Val64_Arg65insLeuProSerAlaSerVal
ENST00000244571.4:c.176_193dup (AARS2)	ENSP00000244571.4:p.Val64_Arg65insLeuProSerAlaSerVal
ENST00000505802.1:c.855+5489_855+5506dup
NM_020745.3:c.176_193dup (AARS2)	NP_065796.1:p.Val64_Arg65insLeuProSerAlaSerVal
XM_005249245.2:c.176_193dup (AARS2)	XP_005249302.1:p.Val64_Arg65insLeuProSerAlaSerVal
XM_011514764.1:c.176_193dup (AARS2)	XP_011513066.1:p.Val64_Arg65insLeuProSerAlaSerVal
XR_241907.2:n.211_228dup (AARS2)
XM_005249245.3:c.176_193dup (AARS2)	XP_005249302.1:p.Val64_Arg65insLeuProSerAlaSerVal
XM_011514764.2:c.176_193dup (AARS2)	XP_011513066.1:p.Val64_Arg65insLeuProSerAlaSerVal
XM_017011112.1:c.-843_-826dup (AARS2)	XP_016866601.1:n.-843_-826dup
NM_020745.4:c.176_193dup (AARS2) MANE Select	NP_065796.2:p.Val64_Arg65insLeuProSerAlaSerVal
NM_001318876.2:c.946-128759_946-128742dup (POLR1C)	NP_001305805.1:n.946-128759_946-128742dup