Canonical Allele Identifier: CA2678954156

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311019-TCCAAAGCTCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311023_44311033del , CM000668.2:g.44311023_44311033del	GRCh38
NC_000006.11:g.44278760_44278770del , CM000668.1:g.44278760_44278770del	GRCh37
NC_000006.10:g.44386738_44386748del	NCBI36
NG_031952.1:g.7297_7307del

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.713_723del (AARS2) MANE Select	ENSP00000244571.4:p.Val238GlufsTer?
ENST00000244571.4:c.713_723del (AARS2)	ENSP00000244571.4:p.Val238GlufsTer?
ENST00000505802.1:c.855+3381_855+3391del
NM_020745.3:c.713_723del (AARS2)	NP_065796.1:p.Val238GlufsTer?
XM_005249245.2:c.713_723del (AARS2)	XP_005249302.1:p.Val238GlufsTer?
XM_011514764.1:c.713_723del (AARS2)	XP_011513066.1:p.Val238GlufsTer?
XR_241907.2:n.748_758del (AARS2)
XM_005249245.3:c.713_723del (AARS2)	XP_005249302.1:p.Val238GlufsTer?
XM_011514764.2:c.713_723del (AARS2)	XP_011513066.1:p.Val238GlufsTer?
XM_017011112.1:c.-306_-296del (AARS2)	XP_016866601.1:n.-306_-296del
NM_020745.4:c.713_723del (AARS2) MANE Select	NP_065796.2:p.Val238GlufsTer?
NM_001318876.2:c.946-130867_946-130857del (POLR1C)	NP_001305805.1:n.946-130867_946-130857del...