Canonical Allele Identifier: CA364336514

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1227211099
• gnomAD v2: 6-44269835-G-A
• gnomAD v3: 6-44302098-G-A
• gnomAD v4: 6-44302098-G-A
• COSMIC: COSM5870788
• MyVariant Identifiers: chr6:g.44269835G>A (hg19) ; chr6:g.44302098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302098G>A , CM000668.2:g.44302098G>A	GRCh38
NC_000006.11:g.44269835G>A , CM000668.1:g.44269835G>A	GRCh37
NC_000006.10:g.44377813G>A	NCBI36
NG_031952.1:g.16229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2560C>T (AARS2) MANE Select	ENSP00000244571.4:p.Arg854Cys
ENST00000244571.4:c.2560C>T (AARS2)	ENSP00000244571.4:p.Arg854Cys
ENST00000438774.2:c.577-4845G>A (TMEM151B)	ENSP00000409337.2:n.577-4845G>A
ENST00000505802.1:c.314-4845G>A
NM_020745.3:c.2560C>T (AARS2)	NP_065796.1:p.Arg854Cys
XM_005249245.2:c.2269C>T (AARS2)	XP_005249302.1:p.Arg757Cys
XM_011514764.1:c.2560C>T (AARS2)	XP_011513066.1:p.Arg854Cys
XR_241907.2:n.2485C>T (AARS2)
XM_005249245.3:c.2269C>T (AARS2)	XP_005249302.1:p.Arg757Cys
XM_011514764.2:c.2560C>T (AARS2)	XP_011513066.1:p.Arg854Cys
XM_017011112.1:c.1270C>T (AARS2)	XP_016866601.1:p.Arg424Cys
NM_020745.4:c.2560C>T (AARS2) MANE Select	NP_065796.2:p.Arg854Cys
NM_001318876.2:c.946-139792G>A (POLR1C)	NP_001305805.1:n.946-139792G>A