Canonical Allele Identifier: CA364337774

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44271153A>C (hg19) ; chr6:g.44303416A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303416A>C , CM000668.2:g.44303416A>C	GRCh38
NC_000006.11:g.44271153A>C , CM000668.1:g.44271153A>C	GRCh37
NC_000006.10:g.44379131A>C	NCBI36
NG_031952.1:g.14911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2015T>G (AARS2) MANE Select	ENSP00000244571.4:p.Leu672Trp
ENST00000244571.4:c.2015T>G (AARS2)	ENSP00000244571.4:p.Leu672Trp
ENST00000438774.2:c.577-3527A>C (TMEM151B)	ENSP00000409337.2:n.577-3527A>C
ENST00000505802.1:c.314-3527A>C
NM_020745.3:c.2015T>G (AARS2)	NP_065796.1:p.Leu672Trp
XM_005249245.2:c.1724T>G (AARS2)	XP_005249302.1:p.Leu575Trp
XM_011514764.1:c.2015T>G (AARS2)	XP_011513066.1:p.Leu672Trp
XR_241907.2:n.2050T>G (AARS2)
XM_005249245.3:c.1724T>G (AARS2)	XP_005249302.1:p.Leu575Trp
XM_011514764.2:c.2015T>G (AARS2)	XP_011513066.1:p.Leu672Trp
XM_017011112.1:c.725T>G (AARS2)	XP_016866601.1:p.Leu242Trp
NM_020745.4:c.2015T>G (AARS2) MANE Select	NP_065796.2:p.Leu672Trp
NM_001318876.2:c.946-138474A>C (POLR1C)	NP_001305805.1:n.946-138474A>C