Canonical Allele Identifier: CA824984636

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1325279925
• gnomAD v4: 6-44302447-TC-T
• MyVariant Identifiers: chr6:g.44270185del (hg19) ; chr6:g.44302448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302451del , CM000668.2:g.44302451del	GRCh38
NC_000006.11:g.44270188del , CM000668.1:g.44270188del	GRCh37
NC_000006.10:g.44378166del	NCBI36
NG_031952.1:g.15879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2430del (AARS2) MANE Select	ENSP00000244571.4:p.Ser811AlafsTer8
ENST00000244571.4:c.2430del (AARS2)	ENSP00000244571.4:p.Ser811AlafsTer8
ENST00000438774.2:c.577-4492del (TMEM151B)	ENSP00000409337.2:n.577-4492del
ENST00000505802.1:c.314-4492del
NM_020745.3:c.2430del (AARS2)	NP_065796.1:p.Ser811AlafsTer8
XM_005249245.2:c.2139del (AARS2)	XP_005249302.1:p.Ser714AlafsTer8
XM_011514764.1:c.2430del (AARS2)	XP_011513066.1:p.Ser811AlafsTer8
XR_241907.2:n.2355del (AARS2)
XM_005249245.3:c.2139del (AARS2)	XP_005249302.1:p.Ser714AlafsTer8
XM_011514764.2:c.2430del (AARS2)	XP_011513066.1:p.Ser811AlafsTer8
XM_017011112.1:c.1140del (AARS2)	XP_016866601.1:p.Ser381AlafsTer8
NM_020745.4:c.2430del (AARS2) MANE Select	NP_065796.2:p.Ser811AlafsTer8
NM_001318876.2:c.946-139439del (POLR1C)	NP_001305805.1:n.946-139439del