Canonical Allele Identifier: CA364336873

Linked Data

dbSNP Id: rs1785438287
gnomAD v3: 6-44302422-C-T
gnomAD v4: 6-44302422-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302422C>T , CM000668.2:g.44302422C>T GRCh38
NC_000006.11:g.44270159C>T , CM000668.1:g.44270159C>T GRCh37
NC_000006.10:g.44378137C>T NCBI36
NG_031952.1:g.15905G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2456G>A (AARS2) MANE Select ENSP00000244571.4:p.Arg819Lys
ENST00000244571.4:c.2456G>A (AARS2) ENSP00000244571.4:p.Arg819Lys
ENST00000438774.2:c.577-4521C>T (TMEM151B) ENSP00000409337.2:n.577-4521C>T
ENST00000505802.1:c.314-4521C>T
NM_020745.3:c.2456G>A (AARS2) NP_065796.1:p.Arg819Lys
XM_005249245.2:c.2165G>A (AARS2) XP_005249302.1:p.Arg722Lys
XM_011514764.1:c.2456G>A (AARS2) XP_011513066.1:p.Arg819Lys
XR_241907.2:n.2381G>A (AARS2)
XM_005249245.3:c.2165G>A (AARS2) XP_005249302.1:p.Arg722Lys
XM_011514764.2:c.2456G>A (AARS2) XP_011513066.1:p.Arg819Lys
XM_017011112.1:c.1166G>A (AARS2) XP_016866601.1:p.Arg389Lys
NM_020745.4:c.2456G>A (AARS2) MANE Select NP_065796.2:p.Arg819Lys
NM_001318876.2:c.946-139468C>T (POLR1C) NP_001305805.1:n.946-139468C>T