Canonical Allele Identifier: CA364341165

Gene: AARS2 POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44279145T>G (hg19) ; chr6:g.44311408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311408T>G , CM000668.2:g.44311408T>G	GRCh38
NC_000006.11:g.44279145T>G , CM000668.1:g.44279145T>G	GRCh37
NC_000006.10:g.44387123T>G	NCBI36
NG_031952.1:g.6919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.563A>C (AARS2) MANE Select	ENSP00000244571.4:p.Asp188Ala
ENST00000244571.4:c.563A>C (AARS2)	ENSP00000244571.4:p.Asp188Ala
ENST00000505802.1:c.855+3766T>G
NM_020745.3:c.563A>C (AARS2)	NP_065796.1:p.Asp188Ala
XM_005249245.2:c.563A>C (AARS2)	XP_005249302.1:p.Asp188Ala
XM_011514764.1:c.563A>C (AARS2)	XP_011513066.1:p.Asp188Ala
XR_241907.2:n.598A>C (AARS2)
XM_005249245.3:c.563A>C (AARS2)	XP_005249302.1:p.Asp188Ala
XM_011514764.2:c.563A>C (AARS2)	XP_011513066.1:p.Asp188Ala
XM_017011112.1:c.-456A>C (AARS2)	XP_016866601.1:n.-456A>C
NM_020745.4:c.563A>C (AARS2) MANE Select	NP_065796.2:p.Asp188Ala
NM_001318876.2:c.946-130482T>G (POLR1C)	NP_001305805.1:n.946-130482T>G