Canonical Allele Identifier: CA650712379

Gene: AARS2 POLR1C

Linked Data

• COSMIC: COSN15664233

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44310924C>T , CM000668.2:g.44310924C>T	GRCh38
NC_000006.11:g.44278661C>T , CM000668.1:g.44278661C>T	GRCh37
NC_000006.10:g.44386639C>T	NCBI36
NG_031952.1:g.7403G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.749+70G>A (AARS2) MANE Select	ENSP00000244571.4:n.749+70G>A
ENST00000244571.4:c.749+70G>A (AARS2)	ENSP00000244571.4:n.749+70G>A
ENST00000505802.1:c.855+3282C>T
NM_020745.3:c.749+70G>A (AARS2)	NP_065796.1:n.749+70G>A
XM_005249245.2:c.749+70G>A (AARS2)	XP_005249302.1:n.749+70G>A
XM_011514764.1:c.749+70G>A (AARS2)	XP_011513066.1:n.749+70G>A
XR_241907.2:n.784+70G>A (AARS2)
XM_005249245.3:c.749+70G>A (AARS2)	XP_005249302.1:n.749+70G>A
XM_011514764.2:c.749+70G>A (AARS2)	XP_011513066.1:n.749+70G>A
XM_017011112.1:c.-270+70G>A (AARS2)	XP_016866601.1:n.-270+70G>A
NM_020745.4:c.749+70G>A (AARS2) MANE Select	NP_065796.2:n.749+70G>A
NM_001318876.2:c.946-130966C>T (POLR1C)	NP_001305805.1:n.946-130966C>T