Canonical Allele Identifier: CA450391453

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311104-C-A
• MyVariant Identifiers: chr6:g.44278841C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311104C>A , CM000668.2:g.44311104C>A	GRCh38
NC_000006.11:g.44278841C>A , CM000668.1:g.44278841C>A	GRCh37
NC_000006.10:g.44386819C>A	NCBI36
NG_031952.1:g.7223G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.639G>T (AARS2) MANE Select	ENSP00000244571.4:p.Gly213=
ENST00000244571.4:c.639G>T (AARS2)	ENSP00000244571.4:p.Gly213=
ENST00000505802.1:c.855+3462C>A
NM_020745.3:c.639G>T (AARS2)	NP_065796.1:p.Gly213=
XM_005249245.2:c.639G>T (AARS2)	XP_005249302.1:p.Gly213=
XM_011514764.1:c.639G>T (AARS2)	XP_011513066.1:p.Gly213=
XR_241907.2:n.674G>T (AARS2)
XM_005249245.3:c.639G>T (AARS2)	XP_005249302.1:p.Gly213=
XM_011514764.2:c.639G>T (AARS2)	XP_011513066.1:p.Gly213=
XM_017011112.1:c.-380G>T (AARS2)	XP_016866601.1:n.-380G>T
NM_020745.4:c.639G>T (AARS2) MANE Select	NP_065796.2:p.Gly213=
NM_001318876.2:c.946-130786C>A (POLR1C)	NP_001305805.1:n.946-130786C>A