Canonical Allele Identifier: CA3833984

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs748406230
• ExAC: 6:44270181 G / A
• gnomAD v2: 6-44270181-G-A
• gnomAD v3: 6-44302444-G-A
• gnomAD v4: 6-44302444-G-A
• MyVariant Identifiers: chr6:g.44270181G>A (hg19) ; chr6:g.44302444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302444G>A , CM000668.2:g.44302444G>A	GRCh38
NC_000006.11:g.44270181G>A , CM000668.1:g.44270181G>A	GRCh37
NC_000006.10:g.44378159G>A	NCBI36
NG_031952.1:g.15883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2434C>T (AARS2) MANE Select	ENSP00000244571.4:p.Arg812Trp
ENST00000244571.4:c.2434C>T (AARS2)	ENSP00000244571.4:p.Arg812Trp
ENST00000438774.2:c.577-4499G>A (TMEM151B)	ENSP00000409337.2:n.577-4499G>A
ENST00000505802.1:c.314-4499G>A
NM_020745.3:c.2434C>T (AARS2)	NP_065796.1:p.Arg812Trp
XM_005249245.2:c.2143C>T (AARS2)	XP_005249302.1:p.Arg715Trp
XM_011514764.1:c.2434C>T (AARS2)	XP_011513066.1:p.Arg812Trp
XR_241907.2:n.2359C>T (AARS2)
XM_005249245.3:c.2143C>T (AARS2)	XP_005249302.1:p.Arg715Trp
XM_011514764.2:c.2434C>T (AARS2)	XP_011513066.1:p.Arg812Trp
XM_017011112.1:c.1144C>T (AARS2)	XP_016866601.1:p.Arg382Trp
NM_020745.4:c.2434C>T (AARS2) MANE Select	NP_065796.2:p.Arg812Trp
NM_001318876.2:c.946-139446G>A (POLR1C)	NP_001305805.1:n.946-139446G>A