Canonical Allele Identifier: CA364336425

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302071G>C , CM000668.2:g.44302071G>C GRCh38
NC_000006.11:g.44269808G>C , CM000668.1:g.44269808G>C GRCh37
NC_000006.10:g.44377786G>C NCBI36
NG_031952.1:g.16256C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2587C>G (AARS2) MANE Select ENSP00000244571.4:p.Gln863Glu
ENST00000244571.4:c.2587C>G (AARS2) ENSP00000244571.4:p.Gln863Glu
ENST00000438774.2:c.577-4872G>C (TMEM151B) ENSP00000409337.2:n.577-4872G>C
ENST00000505802.1:c.314-4872G>C
NM_020745.3:c.2587C>G (AARS2) NP_065796.1:p.Gln863Glu
XM_005249245.2:c.2296C>G (AARS2) XP_005249302.1:p.Gln766Glu
XM_011514764.1:c.2587C>G (AARS2) XP_011513066.1:p.Gln863Glu
XR_241907.2:n.2512C>G (AARS2)
XM_005249245.3:c.2296C>G (AARS2) XP_005249302.1:p.Gln766Glu
XM_011514764.2:c.2587C>G (AARS2) XP_011513066.1:p.Gln863Glu
XM_017011112.1:c.1297C>G (AARS2) XP_016866601.1:p.Gln433Glu
NM_020745.4:c.2587C>G (AARS2) MANE Select NP_065796.2:p.Gln863Glu
NM_001318876.2:c.946-139819G>C (POLR1C) NP_001305805.1:n.946-139819G>C