Canonical Allele Identifier: CA2678955050

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313252-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313256del , CM000668.2:g.44313256del	GRCh38
NC_000006.11:g.44280993del , CM000668.1:g.44280993del	GRCh37
NC_000006.10:g.44388971del	NCBI36
NG_031952.1:g.5074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.71del (AARS2) MANE Select	ENSP00000244571.4:p.Gly24AlafsTer19
ENST00000244571.4:c.71del (AARS2)	ENSP00000244571.4:p.Gly24AlafsTer19
ENST00000505802.1:c.855+5614del
NM_020745.3:c.71del (AARS2)	NP_065796.1:p.Gly24AlafsTer19
XM_005249245.2:c.71del (AARS2)	XP_005249302.1:p.Gly24AlafsTer19
XM_011514764.1:c.71del (AARS2)	XP_011513066.1:p.Gly24AlafsTer19
XR_241907.2:n.106del (AARS2)
XM_005249245.3:c.71del (AARS2)	XP_005249302.1:p.Gly24AlafsTer19
XM_011514764.2:c.71del (AARS2)	XP_011513066.1:p.Gly24AlafsTer19
NM_020745.4:c.71del (AARS2) MANE Select	NP_065796.2:p.Gly24AlafsTer19
NM_001318876.2:c.946-128634del (POLR1C)	NP_001305805.1:n.946-128634del