Canonical Allele Identifier: CA3833936

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs767391931
• ExAC: 6:44269838 G / A
• gnomAD v2: 6-44269838-G-A
• gnomAD v3: 6-44302101-G-A
• gnomAD v4: 6-44302101-G-A
• MyVariant Identifiers: chr6:g.44269838G>A (hg19) ; chr6:g.44302101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302101G>A , CM000668.2:g.44302101G>A	GRCh38
NC_000006.11:g.44269838G>A , CM000668.1:g.44269838G>A	GRCh37
NC_000006.10:g.44377816G>A	NCBI36
NG_031952.1:g.16226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2557C>T (AARS2) MANE Select	ENSP00000244571.4:p.Arg853Trp
ENST00000244571.4:c.2557C>T (AARS2)	ENSP00000244571.4:p.Arg853Trp
ENST00000438774.2:c.577-4842G>A (TMEM151B)	ENSP00000409337.2:n.577-4842G>A
ENST00000505802.1:c.314-4842G>A
NM_020745.3:c.2557C>T (AARS2)	NP_065796.1:p.Arg853Trp
XM_005249245.2:c.2266C>T (AARS2)	XP_005249302.1:p.Arg756Trp
XM_011514764.1:c.2557C>T (AARS2)	XP_011513066.1:p.Arg853Trp
XR_241907.2:n.2482C>T (AARS2)
XM_005249245.3:c.2266C>T (AARS2)	XP_005249302.1:p.Arg756Trp
XM_011514764.2:c.2557C>T (AARS2)	XP_011513066.1:p.Arg853Trp
XM_017011112.1:c.1267C>T (AARS2)	XP_016866601.1:p.Arg423Trp
NM_020745.4:c.2557C>T (AARS2) MANE Select	NP_065796.2:p.Arg853Trp
NM_001318876.2:c.946-139789G>A (POLR1C)	NP_001305805.1:n.946-139789G>A