Canonical Allele Identifier: CA566845377

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1278711524
• gnomAD v2: 6-44278683-T-C
• gnomAD v4: 6-44310946-T-C
• MyVariant Identifiers: chr6:g.44278683T>C (hg19) ; chr6:g.44310946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44310946T>C , CM000668.2:g.44310946T>C	GRCh38
NC_000006.11:g.44278683T>C , CM000668.1:g.44278683T>C	GRCh37
NC_000006.10:g.44386661T>C	NCBI36
NG_031952.1:g.7381A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.749+48A>G (AARS2) MANE Select	ENSP00000244571.4:n.749+48A>G
ENST00000244571.4:c.749+48A>G (AARS2)	ENSP00000244571.4:n.749+48A>G
ENST00000505802.1:c.855+3304T>C
NM_020745.3:c.749+48A>G (AARS2)	NP_065796.1:n.749+48A>G
XM_005249245.2:c.749+48A>G (AARS2)	XP_005249302.1:n.749+48A>G
XM_011514764.1:c.749+48A>G (AARS2)	XP_011513066.1:n.749+48A>G
XR_241907.2:n.784+48A>G (AARS2)
XM_005249245.3:c.749+48A>G (AARS2)	XP_005249302.1:n.749+48A>G
XM_011514764.2:c.749+48A>G (AARS2)	XP_011513066.1:n.749+48A>G
XM_017011112.1:c.-270+48A>G (AARS2)	XP_016866601.1:n.-270+48A>G
NM_020745.4:c.749+48A>G (AARS2) MANE Select	NP_065796.2:n.749+48A>G
NM_001318876.2:c.946-130944T>C (POLR1C)	NP_001305805.1:n.946-130944T>C