Canonical Allele Identifier: CA1077243
Community Standard Title: NM_025150.5(TARS2):c.2053A>G (p.Thr685Ala)
Gene: TARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150506960A>G , CM000663.2:g.150506960A>G GRCh38
NC_000001.10:g.150479436A>G , CM000663.1:g.150479436A>G GRCh37
NC_000001.9:g.148746060A>G NCBI36
NG_012062.1:g.3950A>G
NG_034226.1:g.24597A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025150.5:c.2053A>G MANE Select NP_079426.2:p.Thr685Ala
ENST00000369064.8:c.2053A>G MANE Select ENSP00000358060.3:p.Thr685Ala
NM_001271895.1:c.1807A>G NP_001258824.1:p.Thr603Ala
NM_001271895.2:c.1807A>G NP_001258824.1:p.Thr603Ala
NM_001271896.1:c.1663A>G NP_001258825.1:p.Thr555Ala
NM_001271896.2:c.1663A>G NP_001258825.1:p.Thr555Ala
NM_025150.4:c.2053A>G NP_079426.2:p.Thr685Ala
NR_073513.1:n.1539A>G
NR_073513.2:n.1484A>G
NR_073514.1:n.2015A>G
NR_073514.2:n.1960A>G
ENST00000369051.7:c.*1044A>G ENSP00000358047.3:n.*1044A>G
ENST00000369054.6:c.1663A>G ENSP00000358050.2:p.Thr555Ala
ENST00000369064.7:c.2053A>G ENSP00000358060.3:p.Thr685Ala
ENST00000438568.6:c.1228A>G ENSP00000415002.3:p.Thr410Ala
ENST00000467982.6:c.1632A>G ENSP00000475551.1:n.1632A>G
ENST00000606933.5:c.1807A>G ENSP00000475847.1:p.Thr603Ala
XM_006711555.1:c.1951A>G XP_006711618.1:p.Thr651Ala
XM_006711555.2:c.1951A>G XP_006711618.1:p.Thr651Ala
XM_006711556.1:c.1906A>G XP_006711619.1:p.Thr636Ala
XM_011510009.1:c.1954A>G XP_011508311.1:p.Thr652Ala
XM_017002394.2:c.1804A>G XP_016857883.1:p.Thr602Ala
XM_017002395.2:c.1705A>G XP_016857884.1:p.Thr569Ala