Canonical Allele Identifier: CA3834121

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs767513258
• ExAC: 6:44271152 C / G
• gnomAD v2: 6-44271152-C-G
• gnomAD v4: 6-44303415-C-G
• MyVariant Identifiers: chr6:g.44271152C>G (hg19) ; chr6:g.44303415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303415C>G , CM000668.2:g.44303415C>G	GRCh38
NC_000006.11:g.44271152C>G , CM000668.1:g.44271152C>G	GRCh37
NC_000006.10:g.44379130C>G	NCBI36
NG_031952.1:g.14912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2016G>C (AARS2) MANE Select	ENSP00000244571.4:p.Leu672Phe
ENST00000244571.4:c.2016G>C (AARS2)	ENSP00000244571.4:p.Leu672Phe
ENST00000438774.2:c.577-3528C>G (TMEM151B)	ENSP00000409337.2:n.577-3528C>G
ENST00000505802.1:c.314-3528C>G
NM_020745.3:c.2016G>C (AARS2)	NP_065796.1:p.Leu672Phe
XM_005249245.2:c.1725G>C (AARS2)	XP_005249302.1:p.Leu575Phe
XM_011514764.1:c.2016G>C (AARS2)	XP_011513066.1:p.Leu672Phe
XR_241907.2:n.2051G>C (AARS2)
XM_005249245.3:c.1725G>C (AARS2)	XP_005249302.1:p.Leu575Phe
XM_011514764.2:c.2016G>C (AARS2)	XP_011513066.1:p.Leu672Phe
XM_017011112.1:c.726G>C (AARS2)	XP_016866601.1:p.Leu242Phe
NM_020745.4:c.2016G>C (AARS2) MANE Select	NP_065796.2:p.Leu672Phe
NM_001318876.2:c.946-138475C>G (POLR1C)	NP_001305805.1:n.946-138475C>G