Canonical Allele Identifier: CA1077055

Gene: TARS2

Linked Data

• ClinVar Variation Id: 383521
• ClinVar RCV Id: RCV002065059
• dbSNP Id: rs763390852
• ExAC: 1:150471679 C / T
• gnomAD v2: 1-150471679-C-T
• gnomAD v3: 1-150499203-C-T
• gnomAD v4: 1-150499203-C-T
• COSMIC: COSN26599299
• MyVariant Identifiers: chr1:g.150471679C>T (hg19) ; chr1:g.150499203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150499203C>T , CM000663.2:g.150499203C>T	GRCh38
NC_000001.10:g.150471679C>T , CM000663.1:g.150471679C>T	GRCh37
NC_000001.9:g.148738303C>T	NCBI36
NG_034226.1:g.16840C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369064.8:c.1540-13C>T MANE Select	ENSP00000358060.3:n.1540-13C>T
ENST00000369051.7:c.*531-13C>T	ENSP00000358047.3:n.*531-13C>T
ENST00000369054.6:c.1150-13C>T	ENSP00000358050.2:n.1150-13C>T
ENST00000369064.7:c.1540-13C>T	ENSP00000358060.3:n.1540-13C>T
ENST00000438568.6:c.715-13C>T	ENSP00000415002.3:n.715-13C>T
ENST00000463555.1:n.673-13C>T
ENST00000467982.6:c.1119-13C>T	ENSP00000475551.1:n.1119-13C>T
ENST00000480070.5:n.653-13C>T
ENST00000606933.5:c.1294-13C>T	ENSP00000475847.1:n.1294-13C>T
NM_001271895.1:c.1294-13C>T	NP_001258824.1:n.1294-13C>T
NM_001271896.1:c.1150-13C>T	NP_001258825.1:n.1150-13C>T
NM_025150.4:c.1540-13C>T	NP_079426.2:n.1540-13C>T
NR_073513.1:n.1026-13C>T
NR_073514.1:n.1502-13C>T
XM_006711555.1:c.1540-13C>T	XP_006711618.1:n.1540-13C>T
XM_006711556.1:c.1393-13C>T	XP_006711619.1:n.1393-13C>T
XM_011510009.1:c.1441-13C>T	XP_011508311.1:n.1441-13C>T
XM_006711555.2:c.1540-13C>T	XP_006711618.1:n.1540-13C>T
XM_017002394.2:c.1393-13C>T	XP_016857883.1:n.1393-13C>T
XM_017002395.2:c.1294-13C>T	XP_016857884.1:n.1294-13C>T
NM_025150.5:c.1540-13C>T MANE Select	NP_079426.2:n.1540-13C>T
NM_001271895.2:c.1294-13C>T	NP_001258824.1:n.1294-13C>T
NM_001271896.2:c.1150-13C>T	NP_001258825.1:n.1150-13C>T
NR_073513.2:n.971-13C>T
NR_073514.2:n.1447-13C>T