Canonical Allele Identifier: CA364340907

Gene: AARS2 POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44278806T>A (hg19) ; chr6:g.44311069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311069T>A , CM000668.2:g.44311069T>A	GRCh38
NC_000006.11:g.44278806T>A , CM000668.1:g.44278806T>A	GRCh37
NC_000006.10:g.44386784T>A	NCBI36
NG_031952.1:g.7258A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.674A>T (AARS2) MANE Select	ENSP00000244571.4:p.His225Leu
ENST00000244571.4:c.674A>T (AARS2)	ENSP00000244571.4:p.His225Leu
ENST00000505802.1:c.855+3427T>A
NM_020745.3:c.674A>T (AARS2)	NP_065796.1:p.His225Leu
XM_005249245.2:c.674A>T (AARS2)	XP_005249302.1:p.His225Leu
XM_011514764.1:c.674A>T (AARS2)	XP_011513066.1:p.His225Leu
XR_241907.2:n.709A>T (AARS2)
XM_005249245.3:c.674A>T (AARS2)	XP_005249302.1:p.His225Leu
XM_011514764.2:c.674A>T (AARS2)	XP_011513066.1:p.His225Leu
XM_017011112.1:c.-345A>T (AARS2)	XP_016866601.1:n.-345A>T
NM_020745.4:c.674A>T (AARS2) MANE Select	NP_065796.2:p.His225Leu
NM_001318876.2:c.946-130821T>A (POLR1C)	NP_001305805.1:n.946-130821T>A