Canonical Allele Identifier: CA170064

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 143046
• ClinVar RCV Id: RCV000132554 ; RCV000578231
• dbSNP Id: rs587777591
• ExAC: 6:44272809 G / A
• gnomAD v2: 6-44272809-G-A
• gnomAD v4: 6-44305072-G-A
• MyVariant Identifiers: chr6:g.44272809G>A (hg19) ; chr6:g.44305072G>A (hg38)
• PubMed: PMID:24808023

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305072G>A , CM000668.2:g.44305072G>A	GRCh38
NC_000006.11:g.44272809G>A , CM000668.1:g.44272809G>A	GRCh37
NC_000006.10:g.44380787G>A	NCBI36
NG_031952.1:g.13255C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.1561C>T (AARS2) MANE Select	ENSP00000244571.4:p.Arg521Ter
ENST00000244571.4:c.1561C>T (AARS2)	ENSP00000244571.4:p.Arg521Ter
ENST00000438774.2:c.577-1871G>A (TMEM151B)	ENSP00000409337.2:n.577-1871G>A
ENST00000505802.1:c.314-1871G>A
NM_020745.3:c.1561C>T (AARS2)	NP_065796.1:p.Arg521Ter
XM_005249245.2:c.1270C>T (AARS2)	XP_005249302.1:p.Arg424Ter
XM_011514764.1:c.1561C>T (AARS2)	XP_011513066.1:p.Arg521Ter
XR_241907.2:n.1596C>T (AARS2)
XM_005249245.3:c.1270C>T (AARS2)	XP_005249302.1:p.Arg424Ter
XM_011514764.2:c.1561C>T (AARS2)	XP_011513066.1:p.Arg521Ter
XM_017011112.1:c.271C>T (AARS2)	XP_016866601.1:p.Arg91Ter
NM_020745.4:c.1561C>T (AARS2) MANE Select	NP_065796.2:p.Arg521Ter
NM_001318876.2:c.946-136818G>A (POLR1C)	NP_001305805.1:n.946-136818G>A