Canonical Allele Identifier: CA3834046

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 1216011
• ClinVar RCV Id: RCV001593674
• dbSNP Id: rs325003
• ExAC: 6:44270698 G / C
• gnomAD v2: 6-44270698-G-C
• gnomAD v3: 6-44302961-G-C
• gnomAD v4: 6-44302961-G-C
• MyVariant Identifiers: chr6:g.44270698G>C (hg19) ; chr6:g.44302961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302961G>C , CM000668.2:g.44302961G>C	GRCh38
NC_000006.11:g.44270698G>C , CM000668.1:g.44270698G>C	GRCh37
NC_000006.10:g.44378676G>C	NCBI36
NG_031952.1:g.15366C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2256-51C>G (AARS2) MANE Select	ENSP00000244571.4:n.2256-51C>G
ENST00000244571.4:c.2256-51C>G (AARS2)	ENSP00000244571.4:n.2256-51C>G
ENST00000438774.2:c.577-3982G>C (TMEM151B)	ENSP00000409337.2:n.577-3982G>C
ENST00000505802.1:c.314-3982G>C
NM_020745.3:c.2256-51C>G (AARS2)	NP_065796.1:n.2256-51C>G
XM_005249245.2:c.1965-51C>G (AARS2)	XP_005249302.1:n.1965-51C>G
XM_011514764.1:c.2256-51C>G (AARS2)	XP_011513066.1:n.2256-51C>G
XR_241907.2:n.2181-51C>G (AARS2)
XM_005249245.3:c.1965-51C>G (AARS2)	XP_005249302.1:n.1965-51C>G
XM_011514764.2:c.2256-51C>G (AARS2)	XP_011513066.1:n.2256-51C>G
XM_017011112.1:c.966-51C>G (AARS2)	XP_016866601.1:n.966-51C>G
NM_020745.4:c.2256-51C>G (AARS2) MANE Select	NP_065796.2:n.2256-51C>G
NM_001318876.2:c.946-138929G>C (POLR1C)	NP_001305805.1:n.946-138929G>C