Canonical Allele Identifier: CA3834120

Linked Data

dbSNP Id: rs367918273
gnomAD v2: 6-44271148-G-A
gnomAD v4: 6-44303411-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303411G>A , CM000668.2:g.44303411G>A GRCh38
NC_000006.11:g.44271148G>A , CM000668.1:g.44271148G>A GRCh37
NC_000006.10:g.44379126G>A NCBI36
NG_031952.1:g.14916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2020C>T (AARS2) MANE Select ENSP00000244571.4:p.Pro674Ser
ENST00000244571.4:c.2020C>T (AARS2) ENSP00000244571.4:p.Pro674Ser
ENST00000438774.2:c.577-3532G>A (TMEM151B) ENSP00000409337.2:n.577-3532G>A
ENST00000505802.1:c.314-3532G>A
NM_020745.3:c.2020C>T (AARS2) NP_065796.1:p.Pro674Ser
XM_005249245.2:c.1729C>T (AARS2) XP_005249302.1:p.Pro577Ser
XM_011514764.1:c.2020C>T (AARS2) XP_011513066.1:p.Pro674Ser
XR_241907.2:n.2055C>T (AARS2)
XM_005249245.3:c.1729C>T (AARS2) XP_005249302.1:p.Pro577Ser
XM_011514764.2:c.2020C>T (AARS2) XP_011513066.1:p.Pro674Ser
XM_017011112.1:c.730C>T (AARS2) XP_016866601.1:p.Pro244Ser
NM_020745.4:c.2020C>T (AARS2) MANE Select NP_065796.2:p.Pro674Ser
NM_001318876.2:c.946-138479G>A (POLR1C) NP_001305805.1:n.946-138479G>A