Canonical Allele Identifier: CA450391525

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311158-C-T
• MyVariant Identifiers: chr6:g.44278895C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311158C>T , CM000668.2:g.44311158C>T	GRCh38
NC_000006.11:g.44278895C>T , CM000668.1:g.44278895C>T	GRCh37
NC_000006.10:g.44386873C>T	NCBI36
NG_031952.1:g.7169G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.585G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val195=
ENST00000244571.4:c.585G>A (AARS2)	ENSP00000244571.4:p.Val195=
ENST00000505802.1:c.855+3516C>T
NM_020745.3:c.585G>A (AARS2)	NP_065796.1:p.Val195=
XM_005249245.2:c.585G>A (AARS2)	XP_005249302.1:p.Val195=
XM_011514764.1:c.585G>A (AARS2)	XP_011513066.1:p.Val195=
XR_241907.2:n.620G>A (AARS2)
XM_005249245.3:c.585G>A (AARS2)	XP_005249302.1:p.Val195=
XM_011514764.2:c.585G>A (AARS2)	XP_011513066.1:p.Val195=
XM_017011112.1:c.-434G>A (AARS2)	XP_016866601.1:n.-434G>A
NM_020745.4:c.585G>A (AARS2) MANE Select	NP_065796.2:p.Val195=
NM_001318876.2:c.946-130732C>T (POLR1C)	NP_001305805.1:n.946-130732C>T