Canonical Allele Identifier: CA450316344

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303412-G-A
• MyVariant Identifiers: chr6:g.44271149G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303412G>A , CM000668.2:g.44303412G>A	GRCh38
NC_000006.11:g.44271149G>A , CM000668.1:g.44271149G>A	GRCh37
NC_000006.10:g.44379127G>A	NCBI36
NG_031952.1:g.14915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2019C>T (AARS2) MANE Select	ENSP00000244571.4:p.Thr673=
ENST00000244571.4:c.2019C>T (AARS2)	ENSP00000244571.4:p.Thr673=
ENST00000438774.2:c.577-3531G>A (TMEM151B)	ENSP00000409337.2:n.577-3531G>A
ENST00000505802.1:c.314-3531G>A
NM_020745.3:c.2019C>T (AARS2)	NP_065796.1:p.Thr673=
XM_005249245.2:c.1728C>T (AARS2)	XP_005249302.1:p.Thr576=
XM_011514764.1:c.2019C>T (AARS2)	XP_011513066.1:p.Thr673=
XR_241907.2:n.2054C>T (AARS2)
XM_005249245.3:c.1728C>T (AARS2)	XP_005249302.1:p.Thr576=
XM_011514764.2:c.2019C>T (AARS2)	XP_011513066.1:p.Thr673=
XM_017011112.1:c.729C>T (AARS2)	XP_016866601.1:p.Thr243=
NM_020745.4:c.2019C>T (AARS2) MANE Select	NP_065796.2:p.Thr673=
NM_001318876.2:c.946-138478G>A (POLR1C)	NP_001305805.1:n.946-138478G>A