Canonical Allele Identifier: CA3833987

Linked Data

dbSNP Id: rs771113434
gnomAD v2: 6-44270196-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302459G>C , CM000668.2:g.44302459G>C GRCh38
NC_000006.11:g.44270196G>C , CM000668.1:g.44270196G>C GRCh37
NC_000006.10:g.44378174G>C NCBI36
NG_031952.1:g.15868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2419C>G (AARS2) MANE Select ENSP00000244571.4:p.Leu807Val
ENST00000244571.4:c.2419C>G (AARS2) ENSP00000244571.4:p.Leu807Val
ENST00000438774.2:c.577-4484G>C (TMEM151B) ENSP00000409337.2:n.577-4484G>C
ENST00000505802.1:c.314-4484G>C
NM_020745.3:c.2419C>G (AARS2) NP_065796.1:p.Leu807Val
XM_005249245.2:c.2128C>G (AARS2) XP_005249302.1:p.Leu710Val
XM_011514764.1:c.2419C>G (AARS2) XP_011513066.1:p.Leu807Val
XR_241907.2:n.2344C>G (AARS2)
XM_005249245.3:c.2128C>G (AARS2) XP_005249302.1:p.Leu710Val
XM_011514764.2:c.2419C>G (AARS2) XP_011513066.1:p.Leu807Val
XM_017011112.1:c.1129C>G (AARS2) XP_016866601.1:p.Leu377Val
NM_020745.4:c.2419C>G (AARS2) MANE Select NP_065796.2:p.Leu807Val
NM_001318876.2:c.946-139431G>C (POLR1C) NP_001305805.1:n.946-139431G>C