Canonical Allele Identifier: CA3834107

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs374971594
• ExAC: 6:44271063 G / A
• gnomAD v2: 6-44271063-G-A
• gnomAD v3: 6-44303326-G-A
• gnomAD v4: 6-44303326-G-A
• MyVariant Identifiers: chr6:g.44271063G>A (hg19) ; chr6:g.44303326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303326G>A , CM000668.2:g.44303326G>A	GRCh38
NC_000006.11:g.44271063G>A , CM000668.1:g.44271063G>A	GRCh37
NC_000006.10:g.44379041G>A	NCBI36
NG_031952.1:g.15001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2105C>T (AARS2) MANE Select	ENSP00000244571.4:p.Ala702Val
ENST00000244571.4:c.2105C>T (AARS2)	ENSP00000244571.4:p.Ala702Val
ENST00000438774.2:c.577-3617G>A (TMEM151B)	ENSP00000409337.2:n.577-3617G>A
ENST00000505802.1:c.314-3617G>A
NM_020745.3:c.2105C>T (AARS2)	NP_065796.1:p.Ala702Val
XM_005249245.2:c.1814C>T (AARS2)	XP_005249302.1:p.Ala605Val
XM_011514764.1:c.2105C>T (AARS2)	XP_011513066.1:p.Ala702Val
XR_241907.2:n.2140C>T (AARS2)
XM_005249245.3:c.1814C>T (AARS2)	XP_005249302.1:p.Ala605Val
XM_011514764.2:c.2105C>T (AARS2)	XP_011513066.1:p.Ala702Val
XM_017011112.1:c.815C>T (AARS2)	XP_016866601.1:p.Ala272Val
NM_020745.4:c.2105C>T (AARS2) MANE Select	NP_065796.2:p.Ala702Val
NM_001318876.2:c.946-138564G>A (POLR1C)	NP_001305805.1:n.946-138564G>A