Canonical Allele Identifier: CA2541788066

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313211_44313212insGGAT , CM000668.2:g.44313211_44313212insGGAT	GRCh38
NC_000006.11:g.44280948_44280949insGGAT , CM000668.1:g.44280948_44280949insGGAT	GRCh37
NC_000006.10:g.44388926_44388927insGGAT	NCBI36
NG_031952.1:g.5116_5117insTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.113_114insTCCA (AARS2) MANE Select	ENSP00000244571.4:p.Lys38AsnfsTer?
ENST00000244571.4:c.113_114insTCCA (AARS2)	ENSP00000244571.4:p.Lys38AsnfsTer?
ENST00000505802.1:c.855+5569_855+5570insGGAT
NM_020745.3:c.113_114insTCCA (AARS2)	NP_065796.1:p.Lys38AsnfsTer?
XM_005249245.2:c.113_114insTCCA (AARS2)	XP_005249302.1:p.Lys38AsnfsTer?
XM_011514764.1:c.113_114insTCCA (AARS2)	XP_011513066.1:p.Lys38AsnfsTer?
XR_241907.2:n.148_149insTCCA (AARS2)
XM_005249245.3:c.113_114insTCCA (AARS2)	XP_005249302.1:p.Lys38AsnfsTer?
XM_011514764.2:c.113_114insTCCA (AARS2)	XP_011513066.1:p.Lys38AsnfsTer?
NM_020745.4:c.113_114insTCCA (AARS2) MANE Select	NP_065796.2:p.Lys38AsnfsTer?
NM_001318876.2:c.946-128679_946-128678insGGAT (POLR1C)	NP_001305805.1:n.946-128679_946-128678insGGAT