Canonical Allele Identifier: CA3834074

Linked Data

dbSNP Id: rs762226722
gnomAD v2: 6-44270899-G-A
gnomAD v3: 6-44303162-G-A
gnomAD v4: 6-44303162-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303162G>A , CM000668.2:g.44303162G>A GRCh38
NC_000006.11:g.44270899G>A , CM000668.1:g.44270899G>A GRCh37
NC_000006.10:g.44378877G>A NCBI36
NG_031952.1:g.15165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2159C>T (AARS2) MANE Select ENSP00000244571.4:p.Pro720Leu
ENST00000244571.4:c.2159C>T (AARS2) ENSP00000244571.4:p.Pro720Leu
ENST00000438774.2:c.577-3781G>A (TMEM151B) ENSP00000409337.2:n.577-3781G>A
ENST00000505802.1:c.314-3781G>A
NM_020745.3:c.2159C>T (AARS2) NP_065796.1:p.Pro720Leu
XM_005249245.2:c.1868C>T (AARS2) XP_005249302.1:p.Pro623Leu
XM_011514764.1:c.2159C>T (AARS2) XP_011513066.1:p.Pro720Leu
XR_241907.2:n.2180+124C>T (AARS2)
XM_005249245.3:c.1868C>T (AARS2) XP_005249302.1:p.Pro623Leu
XM_011514764.2:c.2159C>T (AARS2) XP_011513066.1:p.Pro720Leu
XM_017011112.1:c.869C>T (AARS2) XP_016866601.1:p.Pro290Leu
NM_020745.4:c.2159C>T (AARS2) MANE Select NP_065796.2:p.Pro720Leu
NM_001318876.2:c.946-138728G>A (POLR1C) NP_001305805.1:n.946-138728G>A