Canonical Allele Identifier: CA1624932116
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313336C= , CM000668.2:g.44313336C= GRCh38
NC_000006.11:g.44281073C= , CM000668.1:g.44281073C= GRCh37
NC_000006.10:g.44389051C= NCBI36
NG_031952.1:g.4991G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.-13G= (AARS2) MANE Select ENSP00000244571.4:n.-13G=
ENST00000505802.1:c.855+5694C=
XM_005249245.2:c.-13G= (AARS2) XP_005249302.1:n.-13G=
XM_011514764.1:c.-13G= (AARS2) XP_011513066.1:n.-13G=
XR_241907.2:n.23G= (AARS2)
XM_005249245.3:c.-13G= (AARS2) XP_005249302.1:n.-13G=
XM_011514764.2:c.-13G= (AARS2) XP_011513066.1:n.-13G=
NM_020745.4:c.-13G= (AARS2) MANE Select NP_065796.2:n.-13G=
NM_001318876.2:c.946-128554C= (POLR1C) NP_001305805.1:n.946-128554C=
Search 100 bp 5'
Search 100 bp 3'