Canonical Allele Identifier: CA324011

Linked Data

ClinVar Variation Id: 213965
dbSNP Id: rs863223862
gnomAD v2: 6-44274757-C-T
gnomAD v3: 6-44307020-C-T
gnomAD v4: 6-44307020-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44307020C>T , CM000668.2:g.44307020C>T GRCh38
NC_000006.11:g.44274757C>T , CM000668.1:g.44274757C>T GRCh37
NC_000006.10:g.44382735C>T NCBI36
NG_031952.1:g.11307G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.1052G>A (AARS2) MANE Select ENSP00000244571.4:p.Arg351His
ENST00000244571.4:c.1052G>A (AARS2) ENSP00000244571.4:p.Arg351His
ENST00000438774.2:c.654C>T (TMEM151B) ENSP00000409337.2:p.Asp218=
ENST00000505802.1:c.391C>T
NM_020745.3:c.1052G>A (AARS2) NP_065796.1:p.Arg351His
XM_005249245.2:c.761G>A (AARS2) XP_005249302.1:p.Arg254His
XM_011514764.1:c.1052G>A (AARS2) XP_011513066.1:p.Arg351His
XR_241907.2:n.1087G>A (AARS2)
XR_926837.1:n.78C>T
XM_005249245.3:c.761G>A (AARS2) XP_005249302.1:p.Arg254His
XM_011514764.2:c.1052G>A (AARS2) XP_011513066.1:p.Arg351His
XM_017011112.1:c.-258G>A (AARS2) XP_016866601.1:n.-258G>A
NM_020745.4:c.1052G>A (AARS2) MANE Select NP_065796.2:p.Arg351His
NM_001318876.2:c.946-134870C>T (POLR1C) NP_001305805.1:n.946-134870C>T