Canonical Allele Identifier: CA1076635
Gene: TARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389371
dbSNP Id: rs376600610
COSMIC: COSM895546

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150489066C>T , CM000663.2:g.150489066C>T GRCh38
NC_000001.10:g.150461542C>T , CM000663.1:g.150461542C>T GRCh37
NC_000001.9:g.148728166C>T NCBI36
NG_034226.1:g.6703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369064.8:c.366C>T MANE Select ENSP00000358060.3:p.Phe122=
ENST00000369051.7:c.288+78C>T ENSP00000358047.3:n.288+78C>T
ENST00000369053.3:n.386C>T
ENST00000369054.6:c.366C>T ENSP00000358050.2:p.Phe122=
ENST00000369064.7:c.366C>T ENSP00000358060.3:p.Phe122=
ENST00000438568.6:c.62+80C>T ENSP00000415002.3:n.62+80C>T
ENST00000466989.1:n.167C>T
ENST00000467982.6:c.288C>T ENSP00000475551.1:p.Phe96=
ENST00000606933.5:c.366C>T ENSP00000475847.1:p.Phe122=
NM_001271895.1:c.366C>T NP_001258824.1:p.Phe122=
NM_001271896.1:c.366C>T NP_001258825.1:p.Phe122=
NM_025150.4:c.366C>T NP_079426.2:p.Phe122=
NR_073513.1:n.375+78C>T
NR_073514.1:n.453C>T
XM_006711555.1:c.366C>T XP_006711618.1:p.Phe122=
XM_006711556.1:c.366C>T XP_006711619.1:p.Phe122=
XM_011510009.1:c.366C>T XP_011508311.1:p.Phe122=
XM_006711555.2:c.366C>T XP_006711618.1:p.Phe122=
XM_017002394.2:c.366C>T XP_016857883.1:p.Phe122=
XM_017002395.2:c.366C>T XP_016857884.1:p.Phe122=
NM_025150.5:c.366C>T MANE Select NP_079426.2:p.Phe122=
NM_001271895.2:c.366C>T NP_001258824.1:p.Phe122=
NM_001271896.2:c.366C>T NP_001258825.1:p.Phe122=
NR_073513.2:n.320+78C>T
NR_073514.2:n.398C>T