Canonical Allele Identifier: CA1624922487

Linked Data

dbSNP Id: rs1785371620

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44301704del , CM000668.2:g.44301704del GRCh38
NC_000006.11:g.44269441del , CM000668.1:g.44269441del GRCh37
NC_000006.10:g.44377419del NCBI36
NG_031952.1:g.16623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2599-240del (AARS2) MANE Select ENSP00000244571.4:n.2599-240del
ENST00000244571.4:c.2599-240del (AARS2) ENSP00000244571.4:n.2599-240del
ENST00000438774.2:c.577-5239del (TMEM151B) ENSP00000409337.2:n.577-5239del
ENST00000505802.1:c.314-5239del
NM_020745.3:c.2599-240del (AARS2) NP_065796.1:n.2599-240del
XM_005249245.2:c.2308-240del (AARS2) XP_005249302.1:n.2308-240del
XM_011514764.1:c.2599-240del (AARS2) XP_011513066.1:n.2599-240del
XR_241907.2:n.2524-240del (AARS2)
XM_005249245.3:c.2308-240del (AARS2) XP_005249302.1:n.2308-240del
XM_011514764.2:c.2599-240del (AARS2) XP_011513066.1:n.2599-240del
XM_017011112.1:c.1309-240del (AARS2) XP_016866601.1:n.1309-240del
NM_020745.4:c.2599-240del (AARS2) MANE Select NP_065796.2:n.2599-240del
NM_001318876.2:c.946-140186del (POLR1C) NP_001305805.1:n.946-140186del