Canonical Allele Identifier: CA3834037

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 357060
• ClinVar RCV Id: RCV000324868 ; RCV002524486
• dbSNP Id: rs753324375
• ExAC: 6:44270637 G / A
• gnomAD v2: 6-44270637-G-A
• gnomAD v3: 6-44302900-G-A
• gnomAD v4: 6-44302900-G-A
• MyVariant Identifiers: chr6:g.44270637G>A (hg19) ; chr6:g.44302900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302900G>A , CM000668.2:g.44302900G>A	GRCh38
NC_000006.11:g.44270637G>A , CM000668.1:g.44270637G>A	GRCh37
NC_000006.10:g.44378615G>A	NCBI36
NG_031952.1:g.15427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2266C>T (AARS2) MANE Select	ENSP00000244571.4:p.Arg756Cys
ENST00000244571.4:c.2266C>T (AARS2)	ENSP00000244571.4:p.Arg756Cys
ENST00000438774.2:c.577-4043G>A (TMEM151B)	ENSP00000409337.2:n.577-4043G>A
ENST00000505802.1:c.314-4043G>A
NM_020745.3:c.2266C>T (AARS2)	NP_065796.1:p.Arg756Cys
XM_005249245.2:c.1975C>T (AARS2)	XP_005249302.1:p.Arg659Cys
XM_011514764.1:c.2266C>T (AARS2)	XP_011513066.1:p.Arg756Cys
XR_241907.2:n.2191C>T (AARS2)
XM_005249245.3:c.1975C>T (AARS2)	XP_005249302.1:p.Arg659Cys
XM_011514764.2:c.2266C>T (AARS2)	XP_011513066.1:p.Arg756Cys
XM_017011112.1:c.976C>T (AARS2)	XP_016866601.1:p.Arg326Cys
NM_020745.4:c.2266C>T (AARS2) MANE Select	NP_065796.2:p.Arg756Cys
NM_001318876.2:c.946-138990G>A (POLR1C)	NP_001305805.1:n.946-138990G>A