Canonical Allele Identifier: CA364336380

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302060-C-A
• MyVariant Identifiers: chr6:g.44269797C>A (hg19) ; chr6:g.44302060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302060C>A , CM000668.2:g.44302060C>A	GRCh38
NC_000006.11:g.44269797C>A , CM000668.1:g.44269797C>A	GRCh37
NC_000006.10:g.44377775C>A	NCBI36
NG_031952.1:g.16267G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2598G>T (AARS2) MANE Select	ENSP00000244571.4:p.Gln866His
ENST00000244571.4:c.2598G>T (AARS2)	ENSP00000244571.4:p.Gln866His
ENST00000438774.2:c.577-4883C>A (TMEM151B)	ENSP00000409337.2:n.577-4883C>A
ENST00000505802.1:c.314-4883C>A
NM_020745.3:c.2598G>T (AARS2)	NP_065796.1:p.Gln866His
XM_005249245.2:c.2307G>T (AARS2)	XP_005249302.1:p.Gln769His
XM_011514764.1:c.2598G>T (AARS2)	XP_011513066.1:p.Gln866His
XR_241907.2:n.2523G>T (AARS2)
XM_005249245.3:c.2307G>T (AARS2)	XP_005249302.1:p.Gln769His
XM_011514764.2:c.2598G>T (AARS2)	XP_011513066.1:p.Gln866His
XM_017011112.1:c.1308G>T (AARS2)	XP_016866601.1:p.Gln436His
NM_020745.4:c.2598G>T (AARS2) MANE Select	NP_065796.2:p.Gln866His
NM_001318876.2:c.946-139830C>A (POLR1C)	NP_001305805.1:n.946-139830C>A