Canonical Allele Identifier: CA2678954119

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44310901-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44310901G>T , CM000668.2:g.44310901G>T	GRCh38
NC_000006.11:g.44278638G>T , CM000668.1:g.44278638G>T	GRCh37
NC_000006.10:g.44386616G>T	NCBI36
NG_031952.1:g.7426C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.749+93C>A (AARS2) MANE Select	ENSP00000244571.4:n.749+93C>A
ENST00000244571.4:c.749+93C>A (AARS2)	ENSP00000244571.4:n.749+93C>A
ENST00000505802.1:c.855+3259G>T
NM_020745.3:c.749+93C>A (AARS2)	NP_065796.1:n.749+93C>A
XM_005249245.2:c.749+93C>A (AARS2)	XP_005249302.1:n.749+93C>A
XM_011514764.1:c.749+93C>A (AARS2)	XP_011513066.1:n.749+93C>A
XR_241907.2:n.784+93C>A (AARS2)
XM_005249245.3:c.749+93C>A (AARS2)	XP_005249302.1:n.749+93C>A
XM_011514764.2:c.749+93C>A (AARS2)	XP_011513066.1:n.749+93C>A
XM_017011112.1:c.-270+93C>A (AARS2)	XP_016866601.1:n.-270+93C>A
NM_020745.4:c.749+93C>A (AARS2) MANE Select	NP_065796.2:n.749+93C>A
NM_001318876.2:c.946-130989G>T (POLR1C)	NP_001305805.1:n.946-130989G>T