Canonical Allele Identifier: CA824986000

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1342070328
• gnomAD v3: 6-44303363-G-GC
• gnomAD v4: 6-44303363-G-GC
• MyVariant Identifiers: chr6:g.44271100_44271101insC (hg19) ; chr6:g.44303363_44303364insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303367dup , CM000668.2:g.44303367dup	GRCh38
NC_000006.11:g.44271104dup , CM000668.1:g.44271104dup	GRCh37
NC_000006.10:g.44379082dup	NCBI36
NG_031952.1:g.14963dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2067dup (AARS2) MANE Select	ENSP00000244571.4:p.Gln690AlafsTer3
ENST00000244571.4:c.2067dup (AARS2)	ENSP00000244571.4:p.Gln690AlafsTer3
ENST00000438774.2:c.577-3576dup (TMEM151B)	ENSP00000409337.2:n.577-3576dup
ENST00000505802.1:c.314-3576dup
NM_020745.3:c.2067dup (AARS2)	NP_065796.1:p.Gln690AlafsTer3
XM_005249245.2:c.1776dup (AARS2)	XP_005249302.1:p.Gln593AlafsTer3
XM_011514764.1:c.2067dup (AARS2)	XP_011513066.1:p.Gln690AlafsTer3
XR_241907.2:n.2102dup (AARS2)
XM_005249245.3:c.1776dup (AARS2)	XP_005249302.1:p.Gln593AlafsTer3
XM_011514764.2:c.2067dup (AARS2)	XP_011513066.1:p.Gln690AlafsTer3
XM_017011112.1:c.777dup (AARS2)	XP_016866601.1:p.Gln260AlafsTer3
NM_020745.4:c.2067dup (AARS2) MANE Select	NP_065796.2:p.Gln690AlafsTer3
NM_001318876.2:c.946-138523dup (POLR1C)	NP_001305805.1:n.946-138523dup