Canonical Allele Identifier: CA2678954125

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44310913-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44310913A>G , CM000668.2:g.44310913A>G	GRCh38
NC_000006.11:g.44278650A>G , CM000668.1:g.44278650A>G	GRCh37
NC_000006.10:g.44386628A>G	NCBI36
NG_031952.1:g.7414T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.749+81T>C (AARS2) MANE Select	ENSP00000244571.4:n.749+81T>C
ENST00000244571.4:c.749+81T>C (AARS2)	ENSP00000244571.4:n.749+81T>C
ENST00000505802.1:c.855+3271A>G
NM_020745.3:c.749+81T>C (AARS2)	NP_065796.1:n.749+81T>C
XM_005249245.2:c.749+81T>C (AARS2)	XP_005249302.1:n.749+81T>C
XM_011514764.1:c.749+81T>C (AARS2)	XP_011513066.1:n.749+81T>C
XR_241907.2:n.784+81T>C (AARS2)
XM_005249245.3:c.749+81T>C (AARS2)	XP_005249302.1:n.749+81T>C
XM_011514764.2:c.749+81T>C (AARS2)	XP_011513066.1:n.749+81T>C
XM_017011112.1:c.-270+81T>C (AARS2)	XP_016866601.1:n.-270+81T>C
NM_020745.4:c.749+81T>C (AARS2) MANE Select	NP_065796.2:n.749+81T>C
NM_001318876.2:c.946-130977A>G (POLR1C)	NP_001305805.1:n.946-130977A>G