Canonical Allele Identifier: CA3833977

Linked Data

dbSNP Id: rs752360698
gnomAD v2: 6-44270145-T-C
gnomAD v4: 6-44302408-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302408T>C , CM000668.2:g.44302408T>C GRCh38
NC_000006.11:g.44270145T>C , CM000668.1:g.44270145T>C GRCh37
NC_000006.10:g.44378123T>C NCBI36
NG_031952.1:g.15919A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2470A>G (AARS2) MANE Select ENSP00000244571.4:p.Ile824Val
ENST00000244571.4:c.2470A>G (AARS2) ENSP00000244571.4:p.Ile824Val
ENST00000438774.2:c.577-4535T>C (TMEM151B) ENSP00000409337.2:n.577-4535T>C
ENST00000505802.1:c.314-4535T>C
NM_020745.3:c.2470A>G (AARS2) NP_065796.1:p.Ile824Val
XM_005249245.2:c.2179A>G (AARS2) XP_005249302.1:p.Ile727Val
XM_011514764.1:c.2470A>G (AARS2) XP_011513066.1:p.Ile824Val
XR_241907.2:n.2395A>G (AARS2)
XM_005249245.3:c.2179A>G (AARS2) XP_005249302.1:p.Ile727Val
XM_011514764.2:c.2470A>G (AARS2) XP_011513066.1:p.Ile824Val
XM_017011112.1:c.1180A>G (AARS2) XP_016866601.1:p.Ile394Val
NM_020745.4:c.2470A>G (AARS2) MANE Select NP_065796.2:p.Ile824Val
NM_001318876.2:c.946-139482T>C (POLR1C) NP_001305805.1:n.946-139482T>C