Canonical Allele Identifier: CA1076589

Gene: TARS2

Linked Data

• ClinVar Variation Id: 380568
• ClinVar RCV Id: RCV000430018 ; RCV000676943 ; RCV003970140
• dbSNP Id: rs2275245
• ExAC: 1:150460348 C / T
• gnomAD v2: 1-150460348-C-T
• gnomAD v3: 1-150487872-C-T
• gnomAD v4: 1-150487872-C-T
• MyVariant Identifiers: chr1:g.150460348C>T (hg19) ; chr1:g.150487872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150487872C>T , CM000663.2:g.150487872C>T	GRCh38
NC_000001.10:g.150460348C>T , CM000663.1:g.150460348C>T	GRCh37
NC_000001.9:g.148726972C>T	NCBI36
NG_034226.1:g.5509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369064.8:c.81C>T MANE Select	ENSP00000358060.3:p.Thr27=
ENST00000369051.7:c.81C>T	ENSP00000358047.3:p.Thr27=
ENST00000369053.3:n.101C>T
ENST00000369054.6:c.81C>T	ENSP00000358050.2:p.Thr27=
ENST00000369064.7:c.81C>T	ENSP00000358060.3:p.Thr27=
ENST00000438568.6:c.-144C>T	ENSP00000415002.3:n.-144C>T
ENST00000467982.6:c.3C>T	ENSP00000475551.1:p.Thr1=
ENST00000479372.1:n.90C>T
ENST00000606933.5:c.81C>T	ENSP00000475847.1:p.Thr27=
NM_001271895.1:c.81C>T	NP_001258824.1:p.Thr27=
NM_001271896.1:c.81C>T	NP_001258825.1:p.Thr27=
NM_025150.4:c.81C>T	NP_079426.2:p.Thr27=
NR_073513.1:n.168C>T
NR_073514.1:n.168C>T
XM_006711555.1:c.81C>T	XP_006711618.1:p.Thr27=
XM_006711556.1:c.81C>T	XP_006711619.1:p.Thr27=
XM_011510009.1:c.81C>T	XP_011508311.1:p.Thr27=
XM_006711555.2:c.81C>T	XP_006711618.1:p.Thr27=
XM_017002394.2:c.81C>T	XP_016857883.1:p.Thr27=
XM_017002395.2:c.81C>T	XP_016857884.1:p.Thr27=
NM_025150.5:c.81C>T MANE Select	NP_079426.2:p.Thr27=
NM_001271895.2:c.81C>T	NP_001258824.1:p.Thr27=
NM_001271896.2:c.81C>T	NP_001258825.1:p.Thr27=
NR_073513.2:n.113C>T
NR_073514.2:n.113C>T