Canonical Allele Identifier: CA3834280

Linked Data

dbSNP Id: rs755439445

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44305005del , CM000668.2:g.44305005del GRCh38
NC_000006.11:g.44272742del , CM000668.1:g.44272742del GRCh37
NC_000006.10:g.44380720del NCBI36
NG_031952.1:g.13322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.1579+49del (AARS2) MANE Select ENSP00000244571.4:n.1579+49del
ENST00000244571.4:c.1579+49del (AARS2) ENSP00000244571.4:n.1579+49del
ENST00000438774.2:c.577-1938del (TMEM151B) ENSP00000409337.2:n.577-1938del
ENST00000505802.1:c.314-1938del
NM_020745.3:c.1579+49del (AARS2) NP_065796.1:n.1579+49del
XM_005249245.2:c.1288+49del (AARS2) XP_005249302.1:n.1288+49del
XM_011514764.1:c.1579+49del (AARS2) XP_011513066.1:n.1579+49del
XR_241907.2:n.1614+49del (AARS2)
XM_005249245.3:c.1288+49del (AARS2) XP_005249302.1:n.1288+49del
XM_011514764.2:c.1579+49del (AARS2) XP_011513066.1:n.1579+49del
XM_017011112.1:c.289+49del (AARS2) XP_016866601.1:n.289+49del
NM_020745.4:c.1579+49del (AARS2) MANE Select NP_065796.2:n.1579+49del
NM_001318876.2:c.946-136885del (POLR1C) NP_001305805.1:n.946-136885del