Canonical Allele Identifier: CA1624928982
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311203_44311204delinsCA , CM000668.2:g.44311203_44311204delinsCA GRCh38
NC_000006.11:g.44278940_44278941delinsCA , CM000668.1:g.44278940_44278941delinsCA GRCh37
NC_000006.10:g.44386918_44386919delinsCA NCBI36
NG_031952.1:g.7123_7124delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.582-43_582-42delinsTG (AARS2) MANE Select ENSP00000244571.4:n.582-43_582-42delinsTG
ENST00000244571.4:c.582-43_582-42delinsTG (AARS2) ENSP00000244571.4:n.582-43_582-42delinsTG
ENST00000505802.1:c.855+3561_855+3562delinsCA
NM_020745.3:c.582-43_582-42delinsTG (AARS2) NP_065796.1:n.582-43_582-42delinsTG
XM_005249245.2:c.582-43_582-42delinsTG (AARS2) XP_005249302.1:n.582-43_582-42delinsTG
XM_011514764.1:c.582-43_582-42delinsTG (AARS2) XP_011513066.1:n.582-43_582-42delinsTG
XR_241907.2:n.617-43_617-42delinsTG (AARS2)
XM_005249245.3:c.582-43_582-42delinsTG (AARS2) XP_005249302.1:n.582-43_582-42delinsTG
XM_011514764.2:c.582-43_582-42delinsTG (AARS2) XP_011513066.1:n.582-43_582-42delinsTG
XM_017011112.1:c.-437-43_-437-42delinsTG (AARS2) XP_016866601.1:n.-437-43_-437-42delinsTG
NM_020745.4:c.582-43_582-42delinsTG (AARS2) MANE Select NP_065796.2:n.582-43_582-42delinsTG
NM_001318876.2:c.946-130687_946-130686delinsCA (POLR1C) NP_001305805.1:n.946-130687_946-130686delinsCA