Canonical Allele Identifier: CA1077122

Gene: TARS2

Linked Data

• ClinVar Variation Id: 381421
• ClinVar RCV Id: RCV000427699 ; RCV002062423 ; RCV002480298
• dbSNP Id: rs201218331
• ExAC: 1:150477091 C / A
• gnomAD v2: 1-150477091-C-A
• gnomAD v3: 1-150504615-C-A
• gnomAD v4: 1-150504615-C-A
• MyVariant Identifiers: chr1:g.150477091C>A (hg19) ; chr1:g.150504615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150504615C>A , CM000663.2:g.150504615C>A	GRCh38
NC_000001.10:g.150477091C>A , CM000663.1:g.150477091C>A	GRCh37
NC_000001.9:g.148743715C>A	NCBI36
NG_012062.1:g.1605C>A
NG_034226.1:g.22252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369064.8:c.1719-17C>A MANE Select	ENSP00000358060.3:n.1719-17C>A
ENST00000369051.7:c.*710-17C>A	ENSP00000358047.3:n.*710-17C>A
ENST00000369054.6:c.1329-17C>A	ENSP00000358050.2:n.1329-17C>A
ENST00000369064.7:c.1719-17C>A	ENSP00000358060.3:n.1719-17C>A
ENST00000438568.6:c.894-17C>A	ENSP00000415002.3:n.894-17C>A
ENST00000467982.6:c.1298-17C>A	ENSP00000475551.1:n.1298-17C>A
ENST00000483046.1:n.103+180C>A
ENST00000606933.5:c.1473-17C>A	ENSP00000475847.1:n.1473-17C>A
NM_001271895.1:c.1473-17C>A	NP_001258824.1:n.1473-17C>A
NM_001271896.1:c.1329-17C>A	NP_001258825.1:n.1329-17C>A
NM_025150.4:c.1719-17C>A	NP_079426.2:n.1719-17C>A
NR_073513.1:n.1205-17C>A
NR_073514.1:n.1681-17C>A
XM_006711555.1:c.1718+180C>A	XP_006711618.1:n.1718+180C>A
XM_006711556.1:c.1572-17C>A	XP_006711619.1:n.1572-17C>A
XM_011510009.1:c.1620-17C>A	XP_011508311.1:n.1620-17C>A
XM_006711555.2:c.1718+180C>A	XP_006711618.1:n.1718+180C>A
XM_017002394.2:c.1571+180C>A	XP_016857883.1:n.1571+180C>A
XM_017002395.2:c.1472+180C>A	XP_016857884.1:n.1472+180C>A
NM_025150.5:c.1719-17C>A MANE Select	NP_079426.2:n.1719-17C>A
NM_001271895.2:c.1473-17C>A	NP_001258824.1:n.1473-17C>A
NM_001271896.2:c.1329-17C>A	NP_001258825.1:n.1329-17C>A
NR_073513.2:n.1150-17C>A
NR_073514.2:n.1626-17C>A